KLHL7 (kelch like family member 7)

Gene

• Entrez ID: 55975
• Gene name: Kelch like family member 7
• Gene symbol: KLHL7
• Synonyms (NCBI Gene): CISS3, KLHL6, PERCHING, SBBI26
• Disease Acronyms (UniProt): PERCHING
• Chromosome: 7
• Chromosome location: 7p15.3
• Summary: This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77078070	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs137853112	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs137853113	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs137853114	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs746612410	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs780705654	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs879255556	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs879255557	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs879255558	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs943339467	C>T	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1182983579	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554286093	GTT>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, inframe deletion
rs1554286384	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554289078	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554293056	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1554293083	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1583657698	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019844	hsa-miR-375	Microarray	20215506
MIRT048153	hsa-miR-196a-5p	CLASH	23622248
MIRT047233	hsa-miR-181b-5p	CLASH	23622248
MIRT702349	hsa-miR-374c-3p	HITS-CLIP	23313552
MIRT702348	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT702347	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT702346	hsa-miR-4677-3p	HITS-CLIP	23313552
MIRT702345	hsa-miR-4679	HITS-CLIP	23313552
MIRT702344	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT702343	hsa-miR-218-1-3p	HITS-CLIP	23313552
MIRT702342	hsa-miR-659-3p	HITS-CLIP	23313552
MIRT702340	hsa-miR-4635	HITS-CLIP	23313552
MIRT702341	hsa-miR-4680-5p	HITS-CLIP	23313552
MIRT702339	hsa-miR-6790-3p	HITS-CLIP	23313552
MIRT702338	hsa-miR-6821-3p	HITS-CLIP	23313552
MIRT702337	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT702336	hsa-miR-378a-5p	HITS-CLIP	23313552
MIRT702335	hsa-miR-7158-3p	HITS-CLIP	23313552
MIRT702334	hsa-miR-203b-3p	HITS-CLIP	23313552
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT641028	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT641027	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT641026	hsa-miR-4474-5p	HITS-CLIP	23824327
MIRT641025	hsa-miR-5691	HITS-CLIP	23824327
MIRT641024	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636471	hsa-miR-4284	HITS-CLIP	23824327
MIRT641027	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT641026	hsa-miR-4474-5p	HITS-CLIP	27418678
MIRT702349	hsa-miR-374c-3p	HITS-CLIP	23313552
MIRT702348	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT702347	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT702346	hsa-miR-4677-3p	HITS-CLIP	23313552
MIRT702345	hsa-miR-4679	HITS-CLIP	23313552
MIRT702344	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT702343	hsa-miR-218-1-3p	HITS-CLIP	23313552
MIRT702342	hsa-miR-659-3p	HITS-CLIP	23313552
MIRT702340	hsa-miR-4635	HITS-CLIP	23313552
MIRT702341	hsa-miR-4680-5p	HITS-CLIP	23313552
MIRT702339	hsa-miR-6790-3p	HITS-CLIP	23313552
MIRT702338	hsa-miR-6821-3p	HITS-CLIP	23313552
MIRT702337	hsa-miR-4707-3p	HITS-CLIP	23313552
MIRT702336	hsa-miR-378a-5p	HITS-CLIP	23313552
MIRT702335	hsa-miR-7158-3p	HITS-CLIP	23313552
MIRT702334	hsa-miR-203b-3p	HITS-CLIP	23313552
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT641028	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT641027	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT641026	hsa-miR-4474-5p	HITS-CLIP	23824327
MIRT641025	hsa-miR-5691	HITS-CLIP	23824327
MIRT641024	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT636480	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT636479	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT636478	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT636477	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT636476	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT636475	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT636474	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT636473	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT636472	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636471	hsa-miR-4284	HITS-CLIP	23824327
MIRT1098825	hsa-miR-141	CLIP-seq
MIRT1098826	hsa-miR-200a	CLIP-seq
MIRT1098827	hsa-miR-3121-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT1098829	hsa-miR-3182	CLIP-seq
MIRT1098830	hsa-miR-3647-3p	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT1098832	hsa-miR-3973	CLIP-seq
MIRT1098833	hsa-miR-451	CLIP-seq
MIRT1098834	hsa-miR-505	CLIP-seq
MIRT1098835	hsa-miR-518d-5p	CLIP-seq
MIRT1098836	hsa-miR-519b-5p	CLIP-seq
MIRT1098837	hsa-miR-519c-5p	CLIP-seq
MIRT1098838	hsa-miR-520c-5p	CLIP-seq
MIRT1098839	hsa-miR-520g	CLIP-seq
MIRT1098840	hsa-miR-520h	CLIP-seq
MIRT1098841	hsa-miR-526a	CLIP-seq
MIRT1098842	hsa-miR-144	CLIP-seq
MIRT1098843	hsa-miR-3159	CLIP-seq
MIRT1098844	hsa-miR-1298	CLIP-seq
MIRT1098825	hsa-miR-141	CLIP-seq
MIRT1098826	hsa-miR-200a	CLIP-seq
MIRT1098845	hsa-miR-2277-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT1098846	hsa-miR-3908	CLIP-seq
MIRT1098832	hsa-miR-3973	CLIP-seq
MIRT1098847	hsa-miR-4504	CLIP-seq
MIRT1098848	hsa-miR-4666-5p	CLIP-seq
MIRT1098834	hsa-miR-505	CLIP-seq
MIRT1098839	hsa-miR-520g	CLIP-seq
MIRT1098840	hsa-miR-520h	CLIP-seq
MIRT1098849	hsa-miR-542-3p	CLIP-seq
MIRT1098850	hsa-miR-758	CLIP-seq
MIRT1098850	hsa-miR-758	CLIP-seq
MIRT2258071	hsa-miR-193a-5p	CLIP-seq
MIRT2258072	hsa-miR-217	CLIP-seq
MIRT2258073	hsa-miR-3158-5p	CLIP-seq
MIRT2258074	hsa-miR-432	CLIP-seq
MIRT2258075	hsa-miR-4417	CLIP-seq
MIRT2258076	hsa-miR-4418	CLIP-seq
MIRT2258077	hsa-miR-4420	CLIP-seq
MIRT2258078	hsa-miR-509-3-5p	CLIP-seq
MIRT2258079	hsa-miR-509-5p	CLIP-seq
MIRT2258080	hsa-miR-541	CLIP-seq
MIRT2258081	hsa-miR-637	CLIP-seq
MIRT2258082	hsa-miR-654-5p	CLIP-seq
MIRT2452693	hsa-miR-3136-5p	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT2452694	hsa-miR-4439	CLIP-seq
MIRT2452695	hsa-miR-4513	CLIP-seq
MIRT2452696	hsa-miR-943	CLIP-seq
MIRT2559009	hsa-miR-1271	CLIP-seq
MIRT2559010	hsa-miR-129-5p	CLIP-seq
MIRT2559011	hsa-miR-1323	CLIP-seq
MIRT2559012	hsa-miR-149	CLIP-seq
MIRT2559013	hsa-miR-182	CLIP-seq
MIRT2559014	hsa-miR-1825	CLIP-seq
MIRT2559015	hsa-miR-2113	CLIP-seq
MIRT2559016	hsa-miR-3064-5p	CLIP-seq
MIRT1098827	hsa-miR-3121-3p	CLIP-seq
MIRT2452693	hsa-miR-3136-5p	CLIP-seq
MIRT2559017	hsa-miR-3140-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT2559018	hsa-miR-3163	CLIP-seq
MIRT2559019	hsa-miR-3168	CLIP-seq
MIRT1098829	hsa-miR-3182	CLIP-seq
MIRT2559020	hsa-miR-320e	CLIP-seq
MIRT2559021	hsa-miR-34b	CLIP-seq
MIRT1098830	hsa-miR-3647-3p	CLIP-seq
MIRT2559022	hsa-miR-3662	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT2559023	hsa-miR-3672	CLIP-seq
MIRT2559024	hsa-miR-4263	CLIP-seq
MIRT2559025	hsa-miR-433	CLIP-seq
MIRT2258077	hsa-miR-4420	CLIP-seq
MIRT2452694	hsa-miR-4439	CLIP-seq
MIRT2559026	hsa-miR-4502	CLIP-seq
MIRT1098833	hsa-miR-451	CLIP-seq
MIRT2452695	hsa-miR-4513	CLIP-seq
MIRT2559027	hsa-miR-4639-3p	CLIP-seq
MIRT2559028	hsa-miR-4662a-3p	CLIP-seq
MIRT2559029	hsa-miR-4694-3p	CLIP-seq
MIRT2559030	hsa-miR-4727-5p	CLIP-seq
MIRT2559031	hsa-miR-4760-3p	CLIP-seq
MIRT2559032	hsa-miR-4769-3p	CLIP-seq
MIRT2559033	hsa-miR-4778-5p	CLIP-seq
MIRT2559034	hsa-miR-4794	CLIP-seq
MIRT2559035	hsa-miR-485-3p	CLIP-seq
MIRT2559036	hsa-miR-509-3p	CLIP-seq
MIRT1098835	hsa-miR-518d-5p	CLIP-seq
MIRT1098836	hsa-miR-519b-5p	CLIP-seq
MIRT1098837	hsa-miR-519c-5p	CLIP-seq
MIRT1098838	hsa-miR-520c-5p	CLIP-seq
MIRT2559037	hsa-miR-520d-5p	CLIP-seq
MIRT2559038	hsa-miR-520f	CLIP-seq
MIRT2559039	hsa-miR-524-5p	CLIP-seq
MIRT1098841	hsa-miR-526a	CLIP-seq
MIRT2559040	hsa-miR-526b	CLIP-seq
MIRT2559041	hsa-miR-539	CLIP-seq
MIRT2559042	hsa-miR-548g	CLIP-seq
MIRT2559043	hsa-miR-548o	CLIP-seq
MIRT2559044	hsa-miR-576-5p	CLIP-seq
MIRT2559045	hsa-miR-595	CLIP-seq
MIRT2559046	hsa-miR-610	CLIP-seq
MIRT1098850	hsa-miR-758	CLIP-seq
MIRT2452696	hsa-miR-943	CLIP-seq
MIRT2559047	hsa-miR-96	CLIP-seq
MIRT2559009	hsa-miR-1271	CLIP-seq
MIRT2559010	hsa-miR-129-5p	CLIP-seq
MIRT2683624	hsa-miR-1303	CLIP-seq
MIRT2559011	hsa-miR-1323	CLIP-seq
MIRT2559012	hsa-miR-149	CLIP-seq
MIRT2683625	hsa-miR-154	CLIP-seq
MIRT2559013	hsa-miR-182	CLIP-seq
MIRT2559014	hsa-miR-1825	CLIP-seq
MIRT2683626	hsa-miR-186	CLIP-seq
MIRT2683627	hsa-miR-2052	CLIP-seq
MIRT2559016	hsa-miR-3064-5p	CLIP-seq
MIRT1098827	hsa-miR-3121-3p	CLIP-seq
MIRT2452693	hsa-miR-3136-5p	CLIP-seq
MIRT2559017	hsa-miR-3140-3p	CLIP-seq
MIRT1098828	hsa-miR-3145-3p	CLIP-seq
MIRT2559018	hsa-miR-3163	CLIP-seq
MIRT2559019	hsa-miR-3168	CLIP-seq
MIRT1098829	hsa-miR-3182	CLIP-seq
MIRT2683628	hsa-miR-330-3p	CLIP-seq
MIRT1098830	hsa-miR-3647-3p	CLIP-seq
MIRT2559022	hsa-miR-3662	CLIP-seq
MIRT1098831	hsa-miR-3663-3p	CLIP-seq
MIRT2559023	hsa-miR-3672	CLIP-seq
MIRT2683629	hsa-miR-3690	CLIP-seq
MIRT2683630	hsa-miR-4254	CLIP-seq
MIRT2559024	hsa-miR-4263	CLIP-seq
MIRT2683631	hsa-miR-4307	CLIP-seq
MIRT2559025	hsa-miR-433	CLIP-seq
MIRT2258077	hsa-miR-4420	CLIP-seq
MIRT2452694	hsa-miR-4439	CLIP-seq
MIRT2683632	hsa-miR-4475	CLIP-seq
MIRT2559026	hsa-miR-4502	CLIP-seq
MIRT1098833	hsa-miR-451	CLIP-seq
MIRT2452695	hsa-miR-4513	CLIP-seq
MIRT2559027	hsa-miR-4639-3p	CLIP-seq
MIRT2559028	hsa-miR-4662a-3p	CLIP-seq
MIRT2683633	hsa-miR-4668-5p	CLIP-seq
MIRT2559029	hsa-miR-4694-3p	CLIP-seq
MIRT2559030	hsa-miR-4727-5p	CLIP-seq
MIRT2559031	hsa-miR-4760-3p	CLIP-seq
MIRT2559032	hsa-miR-4769-3p	CLIP-seq
MIRT2559033	hsa-miR-4778-5p	CLIP-seq
MIRT2559034	hsa-miR-4794	CLIP-seq
MIRT2559035	hsa-miR-485-3p	CLIP-seq
MIRT1098835	hsa-miR-518d-5p	CLIP-seq
MIRT1098836	hsa-miR-519b-5p	CLIP-seq
MIRT1098837	hsa-miR-519c-5p	CLIP-seq
MIRT1098838	hsa-miR-520c-5p	CLIP-seq
MIRT2559037	hsa-miR-520d-5p	CLIP-seq
MIRT2559038	hsa-miR-520f	CLIP-seq
MIRT2559039	hsa-miR-524-5p	CLIP-seq
MIRT1098841	hsa-miR-526a	CLIP-seq
MIRT2559040	hsa-miR-526b	CLIP-seq
MIRT2559042	hsa-miR-548g	CLIP-seq
MIRT2559043	hsa-miR-548o	CLIP-seq
MIRT2683634	hsa-miR-549	CLIP-seq
MIRT2559044	hsa-miR-576-5p	CLIP-seq
MIRT2559046	hsa-miR-610	CLIP-seq
MIRT2452696	hsa-miR-943	CLIP-seq
MIRT2559047	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21145461, 21828050
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0016567	Process	Protein ubiquitination	IDA	21828050
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	21828050
GO:0042802	Function	Identical protein binding	IPI	21828050
GO:0042803	Function	Protein homodimerization activity	IDA	21828050
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	27392078

Other IDs

• MIM: 611119
• HGNC: 15646
• e!Ensembl: ENSG00000122550

Protein

• UniProt ID: Q8IXQ5
• Protein name: Kelch-like protein 7
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. {ECO:000
• PDB: 3II7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	34 → 141	BTB/POZ domain	Domain
  PF07707	BACK	146 → 248	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	371 → 417	Kelch motif	Repeat
  PF01344	Kelch_1	419 → 468	Kelch motif	Repeat
  PF01344	Kelch_1	470 → 515	Kelch motif	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis. {ECO:0000269|PubMed:16918702}.
• Sequence:

  MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRV
  VLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDA
  ANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTD
  EFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISK
  NFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGG
  SQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKD
  SWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQR
  CSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVK
  DKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVG
  RLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET

• Sequence length: 586

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bohring-opitz syndrome	Bohring syndrome, Bohring-Opitz syndrome	rs387907077, rs373145711, rs200702600, rs750170870, rs387907078, rs1600588199, rs397515401, rs777537805, rs111316898, rs886043994, rs750318549, rs764651405, rs1555912709, rs1555901138, rs1569337452, rs1569324457, rs373221034, rs1569333361, rs1569337176, rs1569339085, rs1600592990, rs1583657698, rs1600588239, rs1600583334, rs1600586587, rs766433101, rs1254271466	29074562
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cold-induced sweating syndrome	COLD-INDUCED SWEATING SYNDROME 1, COLD-INDUCED SWEATING SYNDROME 2, Cold-induced sweating syndrome	rs104894198, rs104894203, rs761746361, rs137853143, rs137853144, rs2145329741, rs137853145, rs367543004, rs137853929, rs137853932, rs137853934, rs137853935, rs768727082, rs137853928, rs879255557, rs879255558, rs780705654, rs879255556, rs1555758035, rs1600650861	27392078
Crisponi syndrome	Crisponi syndrome, CRISPONI/COLD-INDUCED SWEATING SYNDROME 3	rs1600651228	27392078
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180
Mental retardation	Severe intellectual disability, 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
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Retinitis pigmentosa	Retinitis Pigmentosa, RETINITIS PIGMENTOSA 42, Retinitis pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, rs748810737, rs886039867, rs886041040, rs886041502, rs748394238, rs770185023, rs753353134, rs886041773, rs886041376, rs886041178, rs758109813, rs750396156, rs886042613, rs749526785, rs886042722, rs371777049, rs115352681, rs773539640, rs886043417, rs886043587, rs201855602, rs886044304, rs770748359, rs770284500, rs141563823, rs752953889, rs762991211, rs749199721, rs1057517533, rs536593247, rs373208120, rs376894444, rs1057517844, rs374536346, rs116471343, rs865990202, rs1057517700, rs543698823, rs1057518922, rs1057518949, rs368088025, rs1057519193, rs556788423, rs1057519316, rs1057519427, rs1057519317, rs1057519341, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs1057520213, rs766246531, rs1060499783, rs1060501181, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002, rs1060505042, rs748014296, rs62636260, rs1064793289, rs1064795279, rs200712760, rs1064795047, rs1064793506, rs1064793745, rs137954284, rs762150575, rs559155109, rs769671323, rs61755776, rs1064796020, rs199740930, rs1064794848, rs139842473, rs1064794342, rs1064794573, rs778884136, rs777849213, rs1555558169, rs1064797113, rs1064797133, rs1064797134, rs770011113, rs1064797215, rs4672457, rs1064797304, rs773065850, rs1064797364, rs1064797365, rs1085307446, rs1085307972, rs1085307968, rs62645747, rs753886165, rs1555962831, rs1556313552, rs140451304, rs539192853, rs749702843, rs752762669, rs1553449458, rs776788104, rs1553260517, rs145282040, rs773914330, rs757740068, rs1003869920, rs1553252388, rs762388072, rs762159022, rs1362058696, rs1553257498, rs1553257685, rs1288381992, rs1285853856, rs1388040238, rs1553263639, rs751111524, rs1553273280, rs1553274531, rs1035024403, rs746551311, rs780308389, rs1338169194, rs772808534, rs199683808, rs778234759, rs1553188588, rs1553192726, rs764759172, rs541717028, rs746238212, rs1553513437, rs569826109, rs367658438, rs1178184685, rs1553354861, rs754995805, rs770339774, rs1553681348, rs1553687058, rs1553780837, rs1553781176, rs771054395, rs201644238, rs780697796, rs745413794, rs567961453, rs781003757, rs370898371, rs1360937549, rs1553812554, rs753942596, rs144484128, rs146591309, rs773278338, rs1554338016, rs1554268546, rs1554269053, rs1554194404, rs1346842287, rs1554204963, rs1554152094, rs181169439, rs1554183432, rs1554183440, rs930421180, rs1291867456, rs1554214453, rs760798455, rs764163418, rs765129639, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555, rs1554519577, rs1554519635, rs1449723475, rs1554519651, rs769601671, rs1554520068, rs1554671407, rs756678484, rs1477733493, rs1555099048, rs1555050487, rs756632517, rs781670422, rs1555302710, rs766096417, rs377257254, rs773372123, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826, rs1555493707, rs750620302, rs189234741, rs752997229, rs1555801989, rs1555791188, rs1555793207, rs1555794302, rs748531024, rs1555961832, rs1555961849, rs1555961852, rs1555961964, rs1555962965, rs1555964122, rs1555964133, rs771039023, rs1555965653, rs1555965712, rs1555968526, rs1556318627, rs1556318633, rs1555468632, rs1555794509, rs1461319754, rs1555049194, rs1555468920, rs1231250334, rs1555792879, rs1555793828, rs1233480483, rs1161389116, rs1554090012, rs1554125521, rs1554417054, rs1554519822, rs1555961624, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1553121073, rs758593134, rs1554289078, rs1553122926, rs764831063, rs754768875, rs374268850, rs1420628245, rs1553781140, rs1555961677, rs1555961787, rs1369414978, rs1366496013, rs774573692, rs534534437, rs769838859, rs777678022, rs753090404, rs201730567, rs199679165, rs143344549, rs777465132, rs1554163929, rs751176116, rs1553454799, rs564754426, rs1553250072, rs141672841, rs1553354826, rs201823777, rs1419157426, rs1553261478, rs1553253747, rs1309140887, rs776886395, rs1553681433, rs1553687118, rs370758397, rs1278053918, rs1555965107, rs1555474009, rs1423102192, rs1553515435, rs753994107, rs1554269081, rs769512989, rs1239043055, rs1555794205, rs1553272035, rs1555216730, rs1555550617, rs1553354522, rs748847284, rs1433546528, rs1555968248, rs1555968524, rs1556318642, rs1553263572, rs199636364, rs765476745, rs768161313, rs1553252499, rs763463859, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs1212608410, rs200871041, rs1553248216, rs757676723, rs747160949, rs764917754, rs1295968274, rs1553261898, rs1553250416, rs764182950, rs753505333, rs747063294, rs1553249294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs111033382, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs199782530, rs370327669, rs944675223, rs769001387, rs199982344, rs1553313308, rs1553261479, rs988693758, rs1553313793, rs760302201, rs1553271001, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1553273421, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553270954, rs1553259179, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs768813865, rs748961218, rs771583281, rs1188025733, rs868562952, rs762384558, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs1187839124, rs767414973, rs376155416, rs1326370032, rs1427770112, rs528919874, rs764229134, rs750840208, rs752736741, rs1165454778, rs1554220416, rs751629543, rs1554171033, rs763028732, rs1168101857, rs747240928, rs1207247951, rs1555454566, rs199830550, rs192907397, rs1429137932, rs1558049084, rs1558151555, rs748983904, rs1057518826, rs1558366840, rs1212998897, rs746141070, rs1560121685, rs1560122302, rs1560134806, rs868349465, rs1562079314, rs1562109990, rs1562140604, rs1562154478, rs749410700, rs1246397238, rs1563329888, rs1563330595, rs1563983151, rs1566561006, rs1566888340, rs1566585766, rs1566945534, rs777989874, rs771551785, rs1568600184, rs1569235677, rs1569237206, rs1569238659, rs1569258901, rs767797828, rs1262416703, rs776591659, rs1557447255, rs747393487, rs140039128, rs1160669210, rs1569257917, rs745422941, rs988133284, rs766053952, rs748369458, rs1558251742, rs1559100465, rs281865520, rs776526721, rs777103184, rs1318739667, rs1471994744, rs1562481438, rs1562263385, rs778627080, rs758660532, rs41314534, rs1301139848, rs777629750, rs970990957, rs1466666397, rs779334655, rs1558146243, rs1569236971, rs1569237077, rs775957498, rs1566560531, rs1558112968, rs552517556, rs777215595, rs373203896, rs752930400, rs1569235999, rs779169631, rs1560046837, rs776727320, rs767994904, rs772057239, rs186643840, rs779983752, rs1562220891, rs1428612396, rs200862689, rs530749007, rs200248198, rs150412614, rs1360258103, rs1573592033, rs1578278438, rs1197105310, rs1582928662, rs777889289, rs1602347992, rs781705903, rs1571572235, rs1571945537, rs201238640, rs1571953381, rs1453306308, rs201863550, rs1571941465, rs1571941589, rs753908845, rs1572060087, rs771000800, rs1570382663, rs772421550, rs1572826522, rs959069360, rs1578278354, rs768210562, rs1578281136, rs766357803, rs750147338, rs1577296602, rs1581180469, rs1581190641, rs1265680220, rs976670244, rs1581312596, rs1581697849, rs753314164, rs61755811, rs748838955, rs1582221424, rs74419361, rs777482895, rs1582376609, rs1468020897, rs1585557752, rs1585563087, rs1250214380, rs1585563204, rs1585563965, rs1585564175, rs879399888, rs1585567204, rs368489658, rs1594866237, rs759339012, rs1595956455, rs1595956595, rs1365926616, rs775887058, rs1596974169, rs1596996962, rs1600341902, rs1600341931, rs1600355373, rs1600355502, rs1600360338, rs1600360654, rs1601891936, rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, rs1589313739, rs1594214013, rs1371805993, rs1594224781, rs1594280914, rs1594246708, rs1594867516, rs1594867597, rs776270511, rs1595957521, rs1028371920, rs1597445687, rs1176869304, rs1597340989, rs886276412, rs1479239564, rs1600342032, rs1184467860, rs1555961440, rs1346308311, rs1601920423, rs1601920599, rs1601923388, rs1601923578, rs907856232, rs1601940608, rs281865302, rs1601951704, rs1601972255, rs1601972449, rs1601978991, rs1602342597, rs1602347786, rs1602347851, rs1276597208, rs1577301137, rs1561671507, rs1595009158, rs1597951232, rs1600342050, rs1602071514, rs1601931052, rs1602342663, rs1658062720, rs1653548589, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs1656419435, rs1656646424, rs754834155, rs948087886, rs755099565, rs1657965422, rs1657992030, rs1657996197, rs1386612395, rs1660298900, rs764113446, rs1259758261, rs1664490756, rs1667316070, rs1421761057, rs2032462132, rs758733024, rs2036149054, rs2039692173, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852	20547956, 19520207, 22084217, 21828050
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis			ClinVar
Trigonocephaly	Trigonocephaly			ClinVar
Retinitis Pigmentosa	retinitis pigmentosa			GenCC
Cold-Induced Sweating Syndrome	cold-induced sweating syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Corpus Callosum	Associate	30142437
Asthenozoospermia	Associate	36471356
Bohring syndrome	Associate	30142437, 31856884
Brain Diseases	Associate	35670385
Crisponi syndrome	Associate	27392078, 30142437, 31856884, 35670385
Giant Axonal Neuropathy	Associate	19520207
Glioblastoma	Associate	32466770
Hypertensive Retinopathy	Associate	19520207
Kearns Sayre Syndrome	Associate	30142437
Muscle Spasticity	Associate	30142437
Periventricular Nodular Heterotopia	Associate	30142437
Post Acute COVID 19 Syndrome	Associate	35606755
Pulmonary Disease Chronic Obstructive	Associate	25584925
Retinal Degeneration	Associate	22084217
Retinal Diseases	Associate	20547956
Retinal Dystrophies	Associate	31856884
Retinitis Pigmentosa	Associate	19520207, 20547956, 22084217, 23950152, 27392078, 31856884
Retinitis Pigmentosa 42	Associate	22084217
RHYNS syndrome	Associate	31856884
Sjogren's Syndrome	Associate	16108817
Squamous Cell Carcinoma of Head and Neck	Associate	35606755
Vision Disorders	Associate	22084217