TMEM138 (transmembrane protein 138)

Gene

• Entrez ID: 51524
• Gene name: Transmembrane protein 138
• Gene symbol: TMEM138
• Synonyms (NCBI Gene): HSPC196
• Chromosome: 11
• Chromosome location: 11q12.2
• Summary: This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Muta

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907132	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387907133	C>T	Pathogenic	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs387907134	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs886039804	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs917404097	G>A	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019560	hsa-miR-340-5p	Sequencing	20371350
MIRT267395	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT267385	hsa-miR-1321	PAR-CLIP	21572407
MIRT267389	hsa-miR-4739	PAR-CLIP	21572407
MIRT267390	hsa-miR-4756-5p	PAR-CLIP	21572407
MIRT551827	hsa-miR-141-5p	PAR-CLIP	21572407
MIRT551826	hsa-miR-1237-3p	PAR-CLIP	21572407
MIRT551825	hsa-miR-1248	PAR-CLIP	21572407
MIRT551824	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT551823	hsa-miR-4635	PAR-CLIP	21572407
MIRT267386	hsa-miR-4419a	PAR-CLIP	21572407
MIRT267387	hsa-miR-4510	PAR-CLIP	21572407
MIRT267391	hsa-miR-6127	PAR-CLIP	21572407
MIRT267392	hsa-miR-6129	PAR-CLIP	21572407
MIRT267393	hsa-miR-6130	PAR-CLIP	21572407
MIRT267394	hsa-miR-6133	PAR-CLIP	21572407
MIRT551822	hsa-miR-4696	PAR-CLIP	21572407
MIRT267396	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT267397	hsa-miR-7106-5p	PAR-CLIP	21572407
MIRT551821	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT551820	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT551819	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT551818	hsa-miR-526b-5p	PAR-CLIP	21572407
MIRT551817	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT060079	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT060075	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT060079	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT131097	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT131100	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT131098	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT131102	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT060074	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT060081	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT060076	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT060085	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT060075	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT267395	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT267385	hsa-miR-1321	PAR-CLIP	21572407
MIRT267389	hsa-miR-4739	PAR-CLIP	21572407
MIRT267390	hsa-miR-4756-5p	PAR-CLIP	21572407
MIRT551827	hsa-miR-141-5p	PAR-CLIP	21572407
MIRT551826	hsa-miR-1237-3p	PAR-CLIP	21572407
MIRT551825	hsa-miR-1248	PAR-CLIP	21572407
MIRT551824	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT551823	hsa-miR-4635	PAR-CLIP	21572407
MIRT267386	hsa-miR-4419a	PAR-CLIP	21572407
MIRT267387	hsa-miR-4510	PAR-CLIP	21572407
MIRT267391	hsa-miR-6127	PAR-CLIP	21572407
MIRT267392	hsa-miR-6129	PAR-CLIP	21572407
MIRT267393	hsa-miR-6130	PAR-CLIP	21572407
MIRT267394	hsa-miR-6133	PAR-CLIP	21572407
MIRT551822	hsa-miR-4696	PAR-CLIP	21572407
MIRT267396	hsa-miR-6894-5p	PAR-CLIP	21572407
MIRT267397	hsa-miR-7106-5p	PAR-CLIP	21572407
MIRT551821	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT551820	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT551819	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT551818	hsa-miR-526b-5p	PAR-CLIP	21572407
MIRT551817	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT1431075	hsa-miR-1237	CLIP-seq
MIRT1431076	hsa-miR-1252	CLIP-seq
MIRT1431077	hsa-miR-1271	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431079	hsa-miR-133a	CLIP-seq
MIRT1431080	hsa-miR-133b	CLIP-seq
MIRT1431081	hsa-miR-1915	CLIP-seq
MIRT1431082	hsa-miR-31	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT1431084	hsa-miR-3143	CLIP-seq
MIRT1431085	hsa-miR-3182	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT1431087	hsa-miR-346	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT1431089	hsa-miR-3689a-3p	CLIP-seq
MIRT1431090	hsa-miR-3689c	CLIP-seq
MIRT1431091	hsa-miR-383	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431093	hsa-miR-4270	CLIP-seq
MIRT1431094	hsa-miR-4288	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT1431096	hsa-miR-4441	CLIP-seq
MIRT1431097	hsa-miR-4457	CLIP-seq
MIRT1431098	hsa-miR-4459	CLIP-seq
MIRT1431099	hsa-miR-4488	CLIP-seq
MIRT1431100	hsa-miR-4492	CLIP-seq
MIRT1431101	hsa-miR-4498	CLIP-seq
MIRT1431102	hsa-miR-4505	CLIP-seq
MIRT1431103	hsa-miR-4509	CLIP-seq
MIRT1431104	hsa-miR-4535	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431108	hsa-miR-4697-5p	CLIP-seq
MIRT1431109	hsa-miR-4704-3p	CLIP-seq
MIRT1431110	hsa-miR-4726-3p	CLIP-seq
MIRT1431111	hsa-miR-4728-5p	CLIP-seq
MIRT1431112	hsa-miR-4734	CLIP-seq
MIRT1431113	hsa-miR-4746-3p	CLIP-seq
MIRT1431114	hsa-miR-4768-3p	CLIP-seq
MIRT1431115	hsa-miR-4772-5p	CLIP-seq
MIRT1431116	hsa-miR-4790-3p	CLIP-seq
MIRT1431117	hsa-miR-4799-5p	CLIP-seq
MIRT1431118	hsa-miR-492	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431120	hsa-miR-513b	CLIP-seq
MIRT1431121	hsa-miR-555	CLIP-seq
MIRT1431122	hsa-miR-564	CLIP-seq
MIRT1431123	hsa-miR-632	CLIP-seq
MIRT1431124	hsa-miR-654-3p	CLIP-seq
MIRT1431125	hsa-miR-762	CLIP-seq
MIRT1431126	hsa-miR-9	CLIP-seq
MIRT1431127	hsa-miR-96	CLIP-seq
MIRT1431075	hsa-miR-1237	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT1431089	hsa-miR-3689a-3p	CLIP-seq
MIRT1431090	hsa-miR-3689c	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431099	hsa-miR-4488	CLIP-seq
MIRT1431100	hsa-miR-4492	CLIP-seq
MIRT1431101	hsa-miR-4498	CLIP-seq
MIRT1431102	hsa-miR-4505	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431108	hsa-miR-4697-5p	CLIP-seq
MIRT1431111	hsa-miR-4728-5p	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431125	hsa-miR-762	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431079	hsa-miR-133a	CLIP-seq
MIRT1431080	hsa-miR-133b	CLIP-seq
MIRT1431081	hsa-miR-1915	CLIP-seq
MIRT1431082	hsa-miR-31	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT2129220	hsa-miR-3163	CLIP-seq
MIRT2129221	hsa-miR-3189-3p	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT1431087	hsa-miR-346	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT1431091	hsa-miR-383	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431093	hsa-miR-4270	CLIP-seq
MIRT1431094	hsa-miR-4288	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT1431096	hsa-miR-4441	CLIP-seq
MIRT2129222	hsa-miR-4447	CLIP-seq
MIRT1431097	hsa-miR-4457	CLIP-seq
MIRT1431098	hsa-miR-4459	CLIP-seq
MIRT2129223	hsa-miR-4472	CLIP-seq
MIRT2129224	hsa-miR-4481	CLIP-seq
MIRT1431103	hsa-miR-4509	CLIP-seq
MIRT2129225	hsa-miR-4525	CLIP-seq
MIRT2129226	hsa-miR-4633-3p	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431109	hsa-miR-4704-3p	CLIP-seq
MIRT2129227	hsa-miR-4723-5p	CLIP-seq
MIRT1431110	hsa-miR-4726-3p	CLIP-seq
MIRT1431112	hsa-miR-4734	CLIP-seq
MIRT2129228	hsa-miR-4745-5p	CLIP-seq
MIRT1431113	hsa-miR-4746-3p	CLIP-seq
MIRT1431114	hsa-miR-4768-3p	CLIP-seq
MIRT1431115	hsa-miR-4772-5p	CLIP-seq
MIRT1431116	hsa-miR-4790-3p	CLIP-seq
MIRT1431117	hsa-miR-4799-5p	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431120	hsa-miR-513b	CLIP-seq
MIRT2129229	hsa-miR-516b	CLIP-seq
MIRT2129230	hsa-miR-625	CLIP-seq
MIRT1431123	hsa-miR-632	CLIP-seq
MIRT1431124	hsa-miR-654-3p	CLIP-seq
MIRT2129231	hsa-miR-665	CLIP-seq
MIRT1431126	hsa-miR-9	CLIP-seq
MIRT2350797	hsa-let-7a	CLIP-seq
MIRT2350798	hsa-let-7b	CLIP-seq
MIRT2350799	hsa-let-7c	CLIP-seq
MIRT2350800	hsa-let-7d	CLIP-seq
MIRT2350801	hsa-let-7e	CLIP-seq
MIRT2350802	hsa-let-7f	CLIP-seq
MIRT2350803	hsa-let-7g	CLIP-seq
MIRT2350804	hsa-let-7i	CLIP-seq
MIRT2350805	hsa-miR-1225-5p	CLIP-seq
MIRT1431075	hsa-miR-1237	CLIP-seq
MIRT1431078	hsa-miR-1275	CLIP-seq
MIRT1431079	hsa-miR-133a	CLIP-seq
MIRT1431080	hsa-miR-133b	CLIP-seq
MIRT1431082	hsa-miR-31	CLIP-seq
MIRT1431083	hsa-miR-3121-5p	CLIP-seq
MIRT2350806	hsa-miR-3154	CLIP-seq
MIRT2129220	hsa-miR-3163	CLIP-seq
MIRT1431085	hsa-miR-3182	CLIP-seq
MIRT1431086	hsa-miR-3192	CLIP-seq
MIRT2350807	hsa-miR-3202	CLIP-seq
MIRT1431087	hsa-miR-346	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT2350808	hsa-miR-3616-3p	CLIP-seq
MIRT1431089	hsa-miR-3689a-3p	CLIP-seq
MIRT1431090	hsa-miR-3689c	CLIP-seq
MIRT1431091	hsa-miR-383	CLIP-seq
MIRT2350809	hsa-miR-3927	CLIP-seq
MIRT2350810	hsa-miR-4257	CLIP-seq
MIRT1431092	hsa-miR-4260	CLIP-seq
MIRT1431093	hsa-miR-4270	CLIP-seq
MIRT1431094	hsa-miR-4288	CLIP-seq
MIRT2350811	hsa-miR-4303	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT2350812	hsa-miR-4436b-3p	CLIP-seq
MIRT1431096	hsa-miR-4441	CLIP-seq
MIRT1431097	hsa-miR-4457	CLIP-seq
MIRT2350813	hsa-miR-4458	CLIP-seq
MIRT1431098	hsa-miR-4459	CLIP-seq
MIRT1431099	hsa-miR-4488	CLIP-seq
MIRT1431100	hsa-miR-4492	CLIP-seq
MIRT1431101	hsa-miR-4498	CLIP-seq
MIRT2350814	hsa-miR-4500	CLIP-seq
MIRT1431102	hsa-miR-4505	CLIP-seq
MIRT2350815	hsa-miR-4539	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT2350816	hsa-miR-4649-3p	CLIP-seq
MIRT2350817	hsa-miR-4650-3p	CLIP-seq
MIRT2350818	hsa-miR-4659a-3p	CLIP-seq
MIRT2350819	hsa-miR-4659b-3p	CLIP-seq
MIRT1431106	hsa-miR-4665-5p	CLIP-seq
MIRT1431107	hsa-miR-4683	CLIP-seq
MIRT1431108	hsa-miR-4697-5p	CLIP-seq
MIRT1431109	hsa-miR-4704-3p	CLIP-seq
MIRT2350820	hsa-miR-4721	CLIP-seq
MIRT1431111	hsa-miR-4728-5p	CLIP-seq
MIRT1431112	hsa-miR-4734	CLIP-seq
MIRT1431113	hsa-miR-4746-3p	CLIP-seq
MIRT1431114	hsa-miR-4768-3p	CLIP-seq
MIRT1431115	hsa-miR-4772-5p	CLIP-seq
MIRT1431117	hsa-miR-4799-5p	CLIP-seq
MIRT1431119	hsa-miR-501-5p	CLIP-seq
MIRT1431120	hsa-miR-513b	CLIP-seq
MIRT2350821	hsa-miR-548c-3p	CLIP-seq
MIRT1431121	hsa-miR-555	CLIP-seq
MIRT1431123	hsa-miR-632	CLIP-seq
MIRT1431124	hsa-miR-654-3p	CLIP-seq
MIRT1431125	hsa-miR-762	CLIP-seq
MIRT1431126	hsa-miR-9	CLIP-seq
MIRT2350822	hsa-miR-98	CLIP-seq
MIRT1431088	hsa-miR-34c-3p	CLIP-seq
MIRT1431105	hsa-miR-4639-3p	CLIP-seq
MIRT1431095	hsa-miR-4433	CLIP-seq
MIRT2129222	hsa-miR-4447	CLIP-seq
MIRT2129223	hsa-miR-4472	CLIP-seq
MIRT2129224	hsa-miR-4481	CLIP-seq
MIRT2129226	hsa-miR-4633-3p	CLIP-seq
MIRT2129228	hsa-miR-4745-5p	CLIP-seq
MIRT2129229	hsa-miR-516b	CLIP-seq
MIRT2129231	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005774	Component	Vacuolar membrane	IEA
GO:0005929	Component	Cilium	IBA	21873635
GO:0005929	Component	Cilium	IDA	22282472
GO:0016021	Component	Integral component of membrane	IEA
GO:0060271	Process	Cilium assembly	IMP	22282472

Other IDs

• MIM: 614459
• HGNC: 26944
• e!Ensembl: ENSG00000149483

Protein

• UniProt ID: Q9NPI0
• Protein name: Transmembrane protein 138
• Protein function: Required for ciliogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14935	TMEM138	38 → 156	Transmembrane protein 138	Family

• Sequence:

  MLQTSNYSLVLSLQFLLLSYDLFVNSFSELLQKTPVIQLVLFIIQDIAVLFNIIIIFLMF
  FNTFVFQAGLVNLLFHKFKGTIILTAVYFALSISLHVWVMNLRWKNSNSFIWTDGLQMLF
  VFQRLAAVLYCYFYKRTAVRLGDPHFYQDSLWLRKEFMQVRR

• Sequence length: 162

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326	22282472
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Joubert syndrome	JOUBERT SYNDROME 16	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129, rs267607020, rs137852832, rs62635288, rs137852834, rs267606719, rs1554557920, rs137853107, rs756686115, rs758948621, rs137853108, rs267607119, rs786200867, rs267607115, rs267607116, rs201893408, rs267607118, rs202149403, rs121912606, rs121912607, rs121912608, rs121434348, rs121434349, rs121434350, rs267606641, rs387906270, rs267606916, rs312262895, rs312262894, rs201391050, rs387907003, rs367543065, rs1584916464, rs2117674119, rs781815473, rs1584901211, rs1487082103, rs374349989, rs143149764, rs199469707, rs793888505, rs387907131, rs748510210, rs917404097, rs387907132, rs387907133, rs387907134, rs367543061, rs367543062, rs367543064, rs367543063, rs139675596, rs398122866, rs793888508, rs1596763347, rs1596988259, rs312262830, rs386833749, rs386833751, rs386833752, rs386833757, rs386833760, rs11230683, rs386834044, rs386834148, rs386834152, rs386834153, rs386834157, rs386834158, rs386834180, rs386834182, rs386834202, rs386834205, rs397514726, rs397514753, rs397514754, rs398124546, rs62640570, rs62640581, rs62640572, rs281865189, rs587777138, rs587777139, rs587777140, rs587777141, rs587777142, rs587777143, rs375113643, rs1554562278, rs587777145, rs587777146, rs537456518, rs587777156, rs377177061, rs587783013, rs587783014, rs587783016, rs606231259, rs375009168, rs200407856, rs727503853, rs730882231, rs730882217, rs730882221, rs778149316, rs386834043, rs786205568, rs777686211, rs794729226, rs794729195, rs534542684, rs757350052, rs796052128, rs770566897, rs796052129, rs797045104, rs764719093, rs797045437, rs797045224, rs797045223, rs797046039, rs760830696, rs797045918, rs775883520, rs863225149, rs762998472, rs781252161, rs754221308, rs200904521, rs863225178, rs773881370, rs370880399, rs863225173, rs863225171, rs863225172, rs779823379, rs763735590, rs386833759, rs863225176, rs863225168, rs863225179, rs201502401, rs863225174, rs374144275, rs863225154, rs770758833, rs863225153, rs141507441, rs863225155, rs1554064102, rs775263897, rs863225152, rs147416429, rs749523755, rs863225159, rs863225156, rs768675259, rs863225157, rs141153181, rs863225161, rs863225162, rs773362418, rs863225166, rs863225165, rs863225164, rs776886962, rs863225163, rs863225158, rs530569572, rs779680371, rs756856188, rs863225135, rs863225131, rs863225146, rs863225139, rs372659908, rs863225140, rs755407014, rs863225134, rs863225136, rs776093293, rs863225145, rs772989270, rs863225147, rs541041911, rs764412921, rs863225132, rs863225148, rs863225137, rs863225141, rs371637724, rs777668842, rs863225143, rs753085250, rs863225133, rs753874898, rs863225142, rs863225138, rs863225192, rs863225194, rs374703898, rs863225193, rs771203308, rs761382780, rs863225191, rs863225190, rs773954226, rs751309268, rs863225226, rs863225229, rs863225227, rs863225232, rs863225237, rs863225235, rs863225231, rs116647652, rs863225228, rs863225225, rs751517725, rs863225240, rs863225230, rs863225239, rs863225236, rs863225200, rs745688122, rs755459875, rs863225222, rs201010803, rs863225187, rs771454167, rs779262951, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs727503855, rs863225186, rs863225185, rs758550675, rs863225188, rs201097695, rs869312856, rs863225203, rs540255320, rs863225219, rs778533826, rs863225215, rs863225216, rs863225218, rs863225217, rs369488112, rs754279998, rs750436680, rs863225150, rs863225211, rs863225212, rs863225425, rs863225426, rs864309712, rs869025276, rs869025277, rs374574638, rs869025278, rs751962801, rs749435317, rs886038200, rs886038203, rs886038204, rs886038206, rs149170427, rs886039465, rs886039436, rs764109067, rs886039794, rs886039810, rs886039808, rs886039809, rs781848162, rs780225183, rs886042153, rs373604132, rs376974221, rs886044058, rs1057516038, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs1057518822, rs1057519442, rs556808514, rs756789619, rs1057520085, rs755097302, rs1060499781, rs757208121, rs1064795687, rs777464278, rs985118235, rs751128300, rs142759730, rs770770257, rs200444162, rs1554084360, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs749421099, rs1131691889, rs369523378, rs1334483830, rs1402669959, rs1554614893, rs867342730, rs781670422, rs1555218898, rs1555616593, rs555421894, rs1554104276, rs1554102026, rs1554103267, rs1554852272, rs987735817, rs1555208870, rs750696284, rs1021950925, rs779450345, rs1456714047, rs1242532564, rs1555497891, rs1553773296, rs780910490, rs1554117456, rs766572502, rs1553827236, rs1189289587, rs372048855, rs776094913, rs1554604482, rs747025617, rs771866500, rs1392635342, rs375170572, rs1560002959, rs1380418532, rs756276537, rs1565822519, rs1563720581, rs200063331, rs753884599, rs776901858, rs1560184664, rs1559307932, rs1565088283, rs1561601398, rs1017750255, rs1563672487, rs144610914, rs539010725, rs777215595, rs752472169, rs972221242, rs1445957469, rs1482303814, rs561598805, rs1592833648, rs1465414886, rs1567800920, rs1577396376, rs751823180, rs775449384, rs746415983, rs587783017, rs778030031, rs751477523, rs751444506, rs187245292, rs1574587553, rs1584867379, rs1574582671, rs1586336362, rs1484807480, rs1305821156, rs1280425167, rs1583179845, rs1583276758, rs1586074742, rs1039146791, rs1592836704, rs1592639588, rs1592668925, rs1434632102, rs1594219498, rs1589150410, rs1259897171, rs1588830568, rs1592784618, rs1579888631, rs1580084520, rs1580686235, rs1221464366, rs1595050325, rs142375551, rs1593376626, rs1359437084, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs1336317768, rs756752153, rs1825358020, rs1375090095, rs761907569, rs770126103, rs1200131247, rs542206983, rs80034299, rs1320076769, rs752197734, rs901508284	26092869, 22282472
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792, rs886039791, rs886039804, rs886039805, rs886039806, rs886039803, rs886039793, rs765468645, rs1598057395, rs768237094
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Renal insufficiency	Renal Insufficiency	rs1596536873
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803, rs121908282, rs549625604, rs137852837, rs281865192, rs80044281, rs75895925, rs121918244, rs750962965, rs104893678, rs104893680, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs111033578, rs119103283, rs199476183, rs267607017, rs80338903, rs111033367, rs121912599, rs80338902, rs111033364, rs121912600, rs121909398, rs119103286, rs587777809, rs606231137, rs28940274, rs28941468, rs28941469, rs121918283, rs28940276, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs80100937, rs119466001, rs121434241, rs121434242, rs121434236, rs121434238, rs121907899, rs267606876, rs267606875, rs121434286, rs387906312, rs587776590, rs111033258, rs587776595, rs587776596, rs1362648752, rs74315205, rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs111033270, rs1131690770, rs28937883, rs80356530, rs121908375, rs1480243085, rs397515359, rs267606739, rs397515360, rs74315396, rs730880273, rs119489105, rs371956016, rs104894492, rs104894493, rs28937873, rs121912631, rs62637014, rs137853005, rs137853006, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs62638214, rs62638624, rs104894082, rs869320726, rs80358322, rs80358312, rs28939709, rs72664233, rs796051866, rs121918358, rs141659620, rs111033570, rs121909074, rs121909076, rs1581742970, rs104894672, rs61748436, rs104894673, rs2123743692, rs61750415, rs201578674, rs61751408, rs61749438, rs61750061, rs61750064, rs61751374, rs61748548, rs61750200, rs121909205, rs61750130, rs61752410, rs387906387, rs61751383, rs121909206, rs61753033, rs267607077, rs62638191, rs62638193, rs111033593, rs104894374, rs121434491, rs796051871, rs397515379, rs121917851, rs104893967, rs121434631, rs61750172, rs61750173, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs199476104, rs199476112, rs61752063, rs61752067, rs104894928, rs104894933, rs104894930, rs61752068, rs62638634, rs606231180, rs606231181, rs28933687, rs104894927, rs104894878, rs104894880, rs132630264, rs587776746, rs132630266, rs122456134, rs28934610, rs104895317, rs113624356, rs137853300, rs587776778, rs777094000, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs137853290, rs28933990, rs137853291, rs121918579, rs730880317, rs121918581, rs61752895, rs61752871, rs121917745, rs61755806, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs61755798, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs121912550, rs121912552, rs62625014, rs121912884, rs80356555, rs121434542, rs80359870, rs193302848, rs193302849, rs387906646, rs121909835, rs61749433, rs61751399, rs387906836, rs387906837, rs374390376, rs786200928, rs201391050, rs373909351, rs140287375, rs148374859, rs483352908, rs140511594, rs387907136, rs770066665, rs376586707, rs387907268, rs142968179, rs150726175, rs387907294, rs200311463, rs149648640, rs747425652, rs387907314, rs199476198, rs199476187, rs199476189, rs199476190, rs207482233, rs199476197, rs62645748, rs786205121, rs140256288, rs201153410, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033182, rs111033276, rs397516317, rs111033215, rs397516323, rs111033192, rs397516326, rs111033486, rs111033284, rs111033285, rs367928692, rs370983472, rs371981035, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs397517973, rs397517976, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033417, rs397517990, rs397517994, rs111033273, rs397518011, rs397518014, rs375668376, rs397518021, rs397518022, rs111033386, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518048, rs73090721, rs111033263, rs386833612, rs386833697, rs386833728, rs386833749, rs386834148, rs386834153, rs786200944, rs398122391, rs386834239, rs199469697, rs267598278, rs267601099, rs398122960, rs398122525, rs398122991, rs369037463, rs61750120, rs61752435, rs1800728, rs398123339, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs431905521, rs104895298, rs104895316, rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs281865372, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs62645885, rs62645889, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs62645879, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753170, rs61753171, rs61753174, rs281865352, rs281865354, rs281865355, rs281865356, rs281865357, rs281865358, rs281865359, rs281865361, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749450, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61749456, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61751400, rs61752427, rs61752428, rs62642573, rs61750137, rs61750139, rs61754044, rs61750138, rs61750140, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61752439, rs61751403, rs61750562, rs62646872, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61748534, rs61751407, rs61753032, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs62636512, rs281865516, rs62636511, rs281865168, rs281865171, rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs200277476, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs1805143, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs62637025, rs281865194, rs62640580, rs62640570, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs137853907, rs137853923, rs377177061, rs202210819, rs587777377, rs199882533, rs587777599, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs527236129, rs148460146, rs527236048, rs527236101, rs527236100, rs527236062, rs527236056, rs527236092, rs527236065, rs527236068, rs527236069, rs527236066, rs527236076, rs527236067, rs527236082, rs372989281, rs527236116, rs201493928, rs527236105, rs527236083, rs527236113, rs527236086, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236123, rs55958016, rs587777694, rs587783009, rs587783017, rs713993049, rs727504551, rs727505116, rs727503731, rs146733615, rs727503715, rs727505343, rs727503723, rs376764423, rs727504075, rs782252317, rs797044513, rs797044516, rs150232843, rs730882143, rs730882261, rs142422525, rs746523071, rs786204428, rs61750423, rs372006750, rs786204762, rs373862340, rs773372519, rs786204444, rs786204701, rs786204761, rs750228923, rs749909863, rs786205148, rs748902766, rs786205445, rs2723341, rs786205493, rs368098126, rs786205579, rs786205626, rs786205652, rs750542962, rs863223339, rs779007169, rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs794726979, rs794727001, rs794727006, rs794727120, rs794727139, rs794727197, rs797044676, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs377311148, rs794727631, rs794727640, rs201657446, rs372347027, rs758329611, rs797044761, rs148660051, rs779791079, rs753330544, rs796065331, rs199946797, rs794729650, rs373273223, rs781192528, rs534542684, rs386833744, rs886041039, rs746174328, rs797045089, rs752683070, rs774122562, rs376306240, rs368049814, rs797045228, rs770558150, rs772624348, rs200692438, rs772136379, rs863224941, rs759781200, rs771214648, rs370483961, rs869025207, rs777668842, rs753874898, rs371525247, rs749439750, rs780624853, rs727503855, rs863225212, rs201541131, rs80358295, rs80358284, rs869312182, rs869312180, rs869312186, rs869312184, rs869312188, rs869312183, rs869312181, rs869312187, rs869312185, rs200460601, rs768933093, rs879255593, rs869320709, rs749012133, rs762951570, rs869320785, rs760225886, rs766590491, rs876657731, rs397517963, rs876657718, rs876661298, rs775177930, rs886044764, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs746837034, rs368675850, rs878853407, rs878853413, rs878853414, rs878853411, rs878853405, rs758705873, rs878853404, rs878853408, rs765293412, rs878853410, rs878853372, rs878853397, rs878853396, rs878853355, rs878853354, rs878853353, rs750151209, rs201186440, rs761440783, rs757470958, rs878853359, rs878853357, rs878853358, rs768660614, rs878853379, rs878853352, rs878853351, rs878853400, rs762078182, rs372513650, rs199584830, rs878853348, rs878853350, rs878853349, rs143994166, rs878853382, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329, rs878853328, rs878853326, rs751788879, rs878853337, rs878853347, rs878853378, rs878853376, rs781112960, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs878853341, rs878853338, rs878853339, rs878853385, rs377031435, rs760430056, rs878853394, rs878853387, rs878853342, rs878853383, rs878853331, rs878853335, rs878853334, rs868538598, rs878853374, rs878853381, rs867451420, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs757557272, rs552069173, rs139027297, rs765998048, rs886039311, rs748810737, rs886039867, rs748706582, rs886041040, rs886041502, rs886041951, rs748394238, rs886041233, rs367877017, rs886041141, rs780225183, rs886041142, rs769035379, rs753353134, rs886041176, rs886041179, rs886041177, rs886041376, rs886041178, rs758109813, rs760165634, rs750396156, rs749526785, rs371777049, rs886043023, rs776256380, rs773539640, rs776740276, rs575453437, rs201855602, rs886044148, rs886044302, rs770748359, rs753018563, rs779426136, rs200094982, rs141563823, rs770218590, rs752953889, rs886063161, rs199877211, rs749199721, rs1057517533, rs536593247, rs758921360, rs1057517251, rs1057516451, rs376894444, rs746875134, rs147030232, rs1057517692, rs1057517844, rs374536346, rs116471343, rs865990202, rs61752902, rs387906385, rs1057517869, rs1057517700, rs543698823, rs752179149, rs1057517857, rs1057517982, rs62645894, rs1057517715, rs1057518922, rs1057518955, rs775796581, rs1057518793, rs368088025, rs1057519165, rs1057519193, rs556788423, rs1057519342, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs760790294, rs1057520213, rs371489809, rs1057521112, rs763797356, rs1057521475, rs766246531, rs1060499783, rs747656448, rs745340459, rs1166022838, rs775950661, rs375413604, rs1064793289, rs200712760, rs137954284, rs1064793014, rs762150575, rs141823837, rs1064793006, rs769317780, rs559155109, rs753925314, rs769671323, rs199740930, rs1064794848, rs771898125, rs775283269, rs1064794012, rs763762899, rs139842473, rs777849213, rs112005636, rs1064797133, rs1064797134, rs770011113, rs1064797247, rs777497868, rs773065850, rs1064797365, rs1064797368, rs752159903, rs866978361, rs1085307968, rs1375507464, rs772725807, rs201320564, rs776896038, rs764742792, rs1554612159, rs62645747, rs753886165, rs753614067, rs140451304, rs555164150, rs539192853, rs766379510, rs281865531, rs369523378, rs1553192715, rs72664214, rs72653787, rs1473611414, rs1455470131, rs752762669, rs369775002, rs145282040, rs773914330, rs1553263218, rs1003869920, rs1553252388, rs762159022, rs751111524, rs746551311, rs780308389, rs199683808, rs1553186896, rs1297857869, rs776757706, rs778234759, rs1435203678, rs1553188588, rs1553188682, rs1553189507, rs1553190559, rs1553190664, rs1553192432, rs1553192682, rs1553192726, rs1553193813, rs764759172, rs1356104318, rs541717028, rs111733491, rs1553512879, rs1553513437, rs569826109, rs367658438, rs750987123, rs1553403585, rs754995805, rs758291149, rs1553711564, rs1553780837, rs373331232, rs780697796, rs370898371, rs753942596, rs144484128, rs146591309, rs777309662, rs1554186385, rs1554269053, rs1554270834, rs181169439, rs1554183440, rs930421180, rs1554214453, rs760798455, rs764163418, rs866395428, rs765129639, rs1554519555, rs1449723475, rs1554519651, rs769601671, rs977790637, rs1554857529, rs756678484, rs1554824273, rs906525288, rs1555036138, rs1555037395, rs1555096248, rs1555099048, rs531851447, rs1199012623, rs766096417, rs377257254, rs199830550, rs756806434, rs1352458826, rs189234741, rs752997229, rs771450991, rs1555792415, rs1555811525, rs758316679, rs748531024, rs778612831, rs1555870809, rs749009747, rs1555874538, rs1555961832, rs1555961852, rs1556318633, rs1557106557, rs1555955061, rs1554998040, rs1554628460, rs1461319754, rs770390524, rs1553901823, rs1347914291, rs1554519822, rs555421894, rs1556297584, rs1556300610, rs1556300621, rs1554264613, rs758052634, rs775836730, rs1555208870, rs1409688898, rs763371769, rs1554186463, rs779450345, rs778606847, rs754768875, rs765429911, rs1272411609, rs1349849938, rs1002670900, rs1553781140, rs373792616, rs200335504, rs1369414978, rs1366496013, rs1555202584, rs567573386, rs1365490247, rs141386891, rs534534437, rs769838859, rs1201940872, rs753090404, rs138958917, rs761469964, rs1460604134, rs748357067, rs1429786931, rs201730567, rs1553187162, rs1553188071, rs765063151, rs780910490, rs143344549, rs866982675, rs769215629, rs752521456, rs1553189179, rs751176116, rs1244761864, rs765402802, rs782077721, rs143745703, rs201823777, rs1553188916, rs1309140887, rs1431752515, rs1554963305, rs1555965107, rs142285818, rs1307312865, rs1554269081, rs769512989, rs1555225566, rs1553196583, rs951379922, rs1554963058, rs1555200648, rs1555550617, rs1555968248, rs1555098634, rs199636364, rs768161313, rs1553252499, rs1177257719, rs200871041, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs747063294, rs367674026, rs779572631, rs1553257707, rs746447649, rs1431048303, rs749452910, rs1553273330, rs779716464, rs1485173724, rs1553261372, rs1553250150, rs1553299079, rs199782530, rs370327669, rs199982344, rs1553261479, rs988693758, rs760302201, rs1553271001, rs1553313810, rs770383273, rs993185407, rs483353054, rs780779563, rs1553270960, rs775293551, rs754374132, rs1553272176, rs745350407, rs756623509, rs767078782, rs1342455785, rs1177198729, rs372927796, rs748961218, rs771583281, rs1188025733, rs868562952, rs1553250952, rs758303489, rs1484339054, rs781223647, rs1187839124, rs767414973, rs1225343345, rs761292021, rs754702823, rs1553409710, rs1476205467, rs1553421626, rs1553941304, rs1326370032, rs1427770112, rs528919874, rs750840208, rs752736741, rs1165454778, rs751629543, rs1554537807, rs747240928, rs143842048, rs1052030, rs1472566324, rs1555067667, rs1156913215, rs760693838, rs1555454566, rs1555521379, rs1273181642, rs1367927635, rs544773389, rs773862084, rs1555520142, rs764164384, rs779690256, rs750506474, rs878962682, rs116733939, rs1565083843, rs748983904, rs1457937638, rs1189889920, rs746141070, rs868349465, rs1562140604, rs1563329888, rs1563983151, rs776289402, rs1566561006, rs777989874, rs750740765, rs574936510, rs771551785, rs1569235803, rs1569237206, rs370210428, rs1280238814, rs1563366896, rs747914869, rs756310864, rs772170760, rs757823463, rs138011813, rs753884599, rs988133284, rs868732642, rs1557783989, rs1562846257, rs1558251742, rs281865520, rs61750171, rs755733328, rs1471994744, rs758660532, rs1557787756, rs970990957, rs1190307769, rs1569237077, rs752263228, rs971610277, rs775957498, rs1557918635, rs1557918544, rs1565653781, rs552517556, rs777215595, rs1562434099, rs373203896, rs772917364, rs374410829, rs776727320, rs1559643320, rs751290509, rs772057239, rs779983752, rs1562220891, rs778977288, rs377267777, rs777069665, rs145719998, rs1557767754, rs530749007, rs150412614, rs759662695, rs777878533, rs377029071, rs1000861056, rs781705903, rs201863550, rs771000800, rs1571241930, rs1571241947, rs2297669, rs886039299, rs772421550, rs959069360, rs768210562, rs766357803, rs61755811, rs1582780550, rs74419361, rs1585557752, rs1585567204, rs1225032182, rs281865263, rs368489658, rs759339012, rs1595956595, rs1365926616, rs758001091, rs1598146589, rs776004321, rs1601943268, rs754970095, rs745654673, rs1578097528, rs781377291, rs1581211727, rs968692633, rs1600340117, rs1571264574, rs1570377861, rs1302809734, rs536742386, rs769742202, rs185225547, rs752939204, rs748798324, rs751823180, rs770329105, rs774130993, rs775699005, rs1225304963, rs371032798, rs745656125, rs111033477, rs1294402003, rs759408031, rs200387832, rs776204925, rs758899480, rs746351112, rs1562408256, rs751413984, rs769723975, rs374258471, rs1571158279, rs1571134523, rs778114016, rs561075447, rs1571783742, rs759433119, rs1373168392, rs1571243037, rs1232476760, rs1571257754, rs1571258440, rs1571265125, rs61751401, rs1571265241, rs1570367230, rs1401924846, rs1557787473, rs1366296798, rs761209432, rs746291728, rs1578281565, rs745704627, rs765376986, rs769824975, rs376500610, rs888090139, rs764232082, rs1601917999, rs1601974881, rs761460379, rs111033408, rs1571703801, rs774475956, rs1208195953, rs752619497, rs755429480, rs375548374, rs1600335148, rs1254494198, rs1582929649, rs1571848744, rs1571540258, rs368687374, rs1437993640, rs779743222, rs774215025, rs763272975, rs1585563283, rs1587620892, rs776634113, rs1592521438, rs1592521712, rs1592784618, rs1420750126, rs1594867516, rs281865302, rs890453675, rs1577301137, rs1581735836, rs1656419435, rs1386612395, rs1660298900, rs2039692173, rs1659430629, rs1659900155, rs1661098509, rs1661577361, rs751644763, rs1734066547, rs1737442897, rs1761021773, rs1800111659, rs986748364, rs1488052513, rs1766367970, rs1300490966, rs368159852, rs886210482, rs1806033844, rs1806128576, rs748084580, rs1942169028, rs745934202, rs1400806789, rs1257334132, rs2073964950, rs1314226094, rs1927824776, rs2067124487, rs2067127275, rs1854473658, rs1601943325, rs2067985165, rs2067987832, rs1924521431, rs1662216783, rs1571801788, rs1594280740, rs34713174, rs1197863938, rs1278603247, rs778645644, rs766357080, rs1039053911, rs768445391, rs767729255, rs1570373408, rs747950242, rs151141842, rs369184026, rs768713412, rs1657798642, rs1424639717, rs769609970, rs201529124, rs369973540, rs1306732480, rs1368508052, rs1660843703, rs542919944, rs1661575232, rs1005271380, rs1191816747, rs375110174, rs188492864, rs769632183, rs753107507, rs748396645, rs2063883437, rs749842881, rs201782746, rs771980888, rs759184240, rs2084776162, rs142771862, rs368213921, rs772867912, rs145605739, rs760042062, rs1372091680, rs1745312538, rs754916169, rs1355690902, rs1336317768, rs1299355731, rs184722374, rs1245304444, rs1389794536, rs780433094, rs1388177618, rs748370008, rs767005321, rs1231321479, rs1806041389, rs1365908727, rs761969118, rs927241903, rs1844909478, rs28940275, rs775791299, rs111033187, rs778934538, rs2033943937, rs1033594764, rs535922252, rs745741473, rs138370992, rs759505780, rs76076446, rs749738655, rs1968169319, rs1270675463, rs1386256334, rs1924904597, rs2065670611, rs1659900228, rs529598960, rs777673930, rs1228475082, rs1772614934, rs201086679, rs748946491, rs767630412, rs144169488, rs746128841, rs1174120641, rs199537336, rs767366723, rs1767600988, rs1769267226, rs1955083613, rs1826338661, rs1657981991, rs1658082808, rs1658656722, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664643556, rs766411096, rs1664671663, rs1426006136, rs1558138741, rs1665100409, rs1665102146, rs1450635782, rs760544654, rs1216093309, rs1656416727, rs1656646221, rs1656901821, rs1657796004, rs1657799720, rs1419913594, rs1485393201, rs755480221, rs1657961646, rs1657976232, rs1657992342, rs1657997730, rs1658179729, rs1659887829, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1663836291, rs1664810877, rs1665132445, rs1665453379, rs755032078, rs2032220940, rs2032459600, rs769198746, rs2034687946, rs2034852728, rs2035704899, rs2036051613, rs2036054600, rs2036066604, rs757154662, rs2037018431, rs766370703, rs2037679829, rs757525434, rs2038566220, rs1195779037, rs2038568675, rs2039690812, rs1643875847, rs1645824260, rs562037932, rs886042220, rs1444234037, rs779585931, rs1659061509, rs62642580, rs1362964563, rs1242866408, rs1659430143, rs1659452428, rs757449019, rs1659538743, rs1659721337, rs1659840790, rs763911476, rs751844313, rs1340989734, rs1659953619, rs1660137001, rs61750148, rs1660166963, rs1046550021, rs1283350532, rs1660480045, rs1660481072, rs373868915, rs1237125868, rs1660532299, rs757302286, rs1661162346, rs1661163134, rs374224955, rs1448468321, rs1661625047, rs1661663692, rs1661669685, rs868543294, rs1641704371, rs771336246, rs1684627892, rs1684979540, rs1252719064, rs774755041, rs1676904823, rs775776288, rs746238212, rs1278226911, rs1238123416, rs1689010156, rs1689011389, rs200711686, rs1685573282, rs1668402514, rs1366937730, rs761147595, rs1182748194, rs1558488513, rs1667504255, rs1667506537, rs1196801124, rs753619551, rs1558490060, rs866543181, rs762973163, rs1270472063, rs1205704532, rs1671925979, rs774594040, rs748709116, rs749339938, rs1315351235, rs541559170, rs1672973685, rs1674967197, rs1412574975, rs376091780, rs556400279, rs2063893838, rs2063918440, rs2078763986, rs2078764558, rs1692508715, rs761554853, rs762668060, rs943314733, rs1227761587, rs1692915919, rs779023431, rs1692928194, rs1692930941, rs201747279, rs183838250, rs779626652, rs1706422873, rs1706423076, rs1706423758, rs771246451, rs1706439944, rs770399625, rs1472199114, rs1706473340, rs1706474422, rs1706627397, rs1706755871, rs746003280, rs1706843510, rs764109533, rs149079952, rs2084757329, rs1415160298, rs1578278438, rs104893788, rs2084785435, rs1560046837, rs1402468701, rs1578280588, rs984572250, rs1578281706, rs2084801700, rs1235835151, rs1715594024, rs1732788163, rs778059585, rs762782183, rs974173261, rs1560708847, rs1328767121, rs1718726537, rs761152494, rs1743846367, rs369063468, rs775749608, rs768694789, rs1738673948, rs1738698692, rs369717052, rs1237954156, rs767438881, rs1734075026, rs1735848896, rs1736334634, rs761619791, rs747970185, rs1737428529, rs1737429976, rs373037737, rs1737503567, rs746552548, rs759563967, rs1754021035, rs1760621228, rs1746018557, rs1185617030, rs1748947002, rs1292664749, rs1754556067, rs1755688091, rs778188580, rs1758488956, rs1764301206, rs1364707671, rs1784887448, rs781198326, rs1770116834, rs751589956, rs766181526, rs774204108, rs760829254, rs1305999116, rs1331834680, rs1768016995, rs1799985749, rs1799986608, rs1799988458, rs1800110629, rs1800110757, rs1800110798, rs1458793437, rs1800111486, rs61755813, rs1442844778, rs779414078, rs61755794, rs1242862941, rs1761921113, rs1409801782, rs1768346880, rs772549804, rs1768389030, rs1431427428, rs1770904723, rs1774743530, rs1766383947, rs909730457, rs1766404452, rs1767312015, rs1767601715, rs1245121527, rs1767699695, rs1295206142, rs548565748, rs1768657480, rs1765727233, rs1765728504, rs1766556883, rs746499646, rs1766006937, rs1766009155, rs1375767063, rs1459031771, rs779372264, rs986664547, rs1769692830, rs1769707298, rs1793956441, rs1798216037, rs1784156837, rs763759470, rs1797868307, rs749460193, rs371886218, rs1797910388, rs1806020324, rs1806033441, rs1806036718, rs1806037949, rs1488237523, rs1806043158, rs1230883512, rs1806057300, rs779290365, rs746396730, rs1806079331, rs373109791, rs1806160527, rs1822989898, rs202036979, rs141099767, rs1819778559, rs751600925, rs763785730, rs1819787095, rs754275640, rs1819797791, rs1821068883, rs776271026, rs1363491382, rs1042726781, rs1363359148, rs781881541, rs1861132418, rs1865149889, rs1866696630, rs754876029, rs1841315122, rs1841460358, rs1842189258, rs760608593, rs1842324166, rs1844615558, rs1844944116, rs2058399145, rs1403661741, rs746820022, rs1236291370, rs2058673701, rs2041025786, rs1243587288, rs1850697098, rs1850741468, rs1209208472, rs1382219910, rs980876322, rs762398929, rs1942208203, rs1856478505, rs1856787758, rs1856790811, rs775166854, rs2098614719, rs2098676296, rs2098677212, rs782639389, rs1953075862, rs1954927143, rs749747871, rs780609120, rs375135224, rs2033241849, rs2033937635, rs748471942, rs1345994179, rs2037229663, rs762633090, rs774490795, rs769102771, rs1882854195, rs1882945917, rs1883031542, rs1739469293, rs768178406, rs747257567, rs761167763, rs1163040913, rs2038196341, rs140257538, rs760813820, rs751589863, rs766173950, rs779740894, rs769845921, rs2034398158, rs2034427266, rs200047855, rs2074443699, rs1566947860, rs1489149705, rs955766374, rs2054237722, rs2065896039, rs766675673, rs561618945, rs762111572, rs2033706353, rs2034681207, rs2034747055, rs762817061, rs2035847573, rs2046158549, rs1451575280, rs756885471, rs1210263161, rs1960899756, rs1468272829, rs1157108621, rs1193604660, rs121434239, rs1911391944, rs773201535, rs1975949139, rs769818541, rs104894671, rs1968162133, rs1968165008, rs1968165080, rs1968169004, rs1968170098, rs2073701307, rs2073708846, rs2073709089, rs2073817463, rs2073817965, rs2073854068, rs2073855020, rs2073873693, rs2073875313, rs2073876392, rs2073926924, rs2073964314, rs1342475527, rs2073970078, rs2073970450, rs2074043162, rs2064852005, rs759131391, rs2067513100, rs775124094, rs890128759, rs2088652401, rs1300228825, rs2089115544, rs752395624, rs756223600, rs1925733148, rs1927703176, rs1927819239, rs1928220547, rs1928222017, rs2067114709, rs2067117239, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs1569235999, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169164, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067175855, rs2067176160, rs2067176379, rs1373833359, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs2067196140, rs2067201139, rs2067217398, rs2067217662, rs2067217874, rs2067218363, rs2067267431, rs2067277129, rs2067406342, rs2067449854, rs2067451355, rs62642057, rs2067700774, rs2067877357, rs2067878321, rs2067878443, rs2067976665, rs2067985696, rs2064376489, rs2064378728, rs1924521211, rs1924895234, rs1924896735, rs1924897230, rs1924901288, rs1924904407, rs1925035229, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs1244003380, rs1926202704, rs1926208067, rs1926208868, rs1929999634, rs1930006988, rs1930414140, rs1930421028, rs1930424797, rs1930435879, rs1930445401, rs1934694621, rs762837543, rs1927017073, rs1649583816, rs1292874452, rs1654722914, rs760287363, rs1664686689, rs1665282720, rs1235430504, rs1371160062, rs1661818720, rs2031604509, rs1558244152, rs2034951427, rs2037617658, rs912980910, rs2037658254, rs756111113, rs1658918693, rs759513613, rs61750156, rs1659914923, rs751319688, rs1659997092, rs1168144507, rs544428779, rs1662599697, rs1677289241, rs1687854945, rs1005130980, rs1334444660, rs1560664459, rs1577845276, rs1722845773, rs1472802723, rs898144119, rs1383907349, rs781616522, rs369896113, rs1753232409, rs1751572548, rs769286352, rs1761904690, rs1768621810, rs1769469813, rs1826145876, rs1951414426, rs1402893508, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs547198427, rs2058440863, rs1941247515, rs1941898895, rs1856202628, rs1856699646, rs1956849074, rs1957972028, rs1939312423, rs1399741348, rs752197734, rs2035880971, rs2038012556, rs760391688, rs2054201689, rs2065735740, rs748523056, rs2034739931, rs1961362638, rs2073798309, rs2073871791, rs2073961843, rs2073971858, rs752137434, rs2035758739, rs1928365871, rs1928241490, rs2067453631, rs1924915809, rs1925389524, rs782557600, rs2065753439, rs1924181543, rs1930090887, rs1603263147, rs1931625021, rs1934693393, rs748680704, rs765070399, rs765676754, rs1366609497, rs1657036615, rs1467000353, rs1667513233, rs1167380267, rs2084786704, rs1295259849, rs1819778622, rs374517178, rs368984997, rs2040644756, rs775073228, rs148045000, rs2067140574, rs2067148119, rs2067179633, rs2067190976, rs2067200470, rs2067498092, rs1924193863
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Joubert Syndrome With Oculorenal Defect	Joubert syndrome with oculorenal defect			GenCC
Joubert Syndrome	Joubert syndrome 16			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Ciliopathies	Associate	34354814, 35394880
Nerve Degeneration	Associate	35394880