ATP6AP2 (ATPase H+ transporting accessory protein 2)

Gene

• Entrez ID: 10159
• Gene name: ATPase H+ transporting accessory protein 2
• Gene symbol: ATP6AP2
• Synonyms: (P)RR, APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS
• Chromosome: X
• Chromosome location: Xp11.4
• Summary: This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918521	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs397518480	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1057519331	T>A	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019402	hsa-miR-148b-3p	Microarray	17612493
MIRT029627	hsa-miR-26b-5p	Microarray	19088304
MIRT036463	hsa-miR-1226-3p	CLASH	23622248
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT109893	hsa-miR-140-3p	Luciferase reporter assay, Western blot	26722475
MIRT109893	hsa-miR-140-3p	Luciferase reporter assay, Western blot	26722475
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT660435	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT660434	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660433	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT660432	hsa-miR-4263	HITS-CLIP	23824327
MIRT660431	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT808444	hsa-miR-128	CLIP-seq
MIRT808445	hsa-miR-1284	CLIP-seq
MIRT808446	hsa-miR-1296	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808449	hsa-miR-2909	CLIP-seq
MIRT808450	hsa-miR-298	CLIP-seq
MIRT808451	hsa-miR-3065-5p	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT808453	hsa-miR-3158-3p	CLIP-seq
MIRT808454	hsa-miR-3678-3p	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT808456	hsa-miR-3909	CLIP-seq
MIRT808457	hsa-miR-3942-3p	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT808460	hsa-miR-4282	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT808463	hsa-miR-4446-3p	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT808466	hsa-miR-4654	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT808468	hsa-miR-4699-3p	CLIP-seq
MIRT808469	hsa-miR-4753-3p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808471	hsa-miR-4768-5p	CLIP-seq
MIRT808472	hsa-miR-4769-5p	CLIP-seq
MIRT808473	hsa-miR-4799-5p	CLIP-seq
MIRT808474	hsa-miR-495	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT808477	hsa-miR-505	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT808481	hsa-miR-548ac	CLIP-seq
MIRT808482	hsa-miR-548ae	CLIP-seq
MIRT808483	hsa-miR-548aj	CLIP-seq
MIRT808484	hsa-miR-548am	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT808486	hsa-miR-548d-3p	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT808488	hsa-miR-548x	CLIP-seq
MIRT808489	hsa-miR-548z	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT808493	hsa-miR-759	CLIP-seq
MIRT808446	hsa-miR-1296	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808449	hsa-miR-2909	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT808453	hsa-miR-3158-3p	CLIP-seq
MIRT1938806	hsa-miR-340	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808456	hsa-miR-3909	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808460	hsa-miR-4282	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT808463	hsa-miR-4446-3p	CLIP-seq
MIRT1938809	hsa-miR-448	CLIP-seq
MIRT1938810	hsa-miR-4495	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT1938813	hsa-miR-4728-3p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT1938815	hsa-miR-548a-5p	CLIP-seq
MIRT1938816	hsa-miR-548ab	CLIP-seq
MIRT1938817	hsa-miR-548ak	CLIP-seq
MIRT1938818	hsa-miR-548b-5p	CLIP-seq
MIRT1938819	hsa-miR-548c-5p	CLIP-seq
MIRT1938820	hsa-miR-548d-5p	CLIP-seq
MIRT1938821	hsa-miR-548h	CLIP-seq
MIRT1938822	hsa-miR-548i	CLIP-seq
MIRT1938823	hsa-miR-548j	CLIP-seq
MIRT1938824	hsa-miR-548k	CLIP-seq
MIRT1938825	hsa-miR-548l	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT1938826	hsa-miR-548w	CLIP-seq
MIRT1938827	hsa-miR-548y	CLIP-seq
MIRT1938828	hsa-miR-559	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT808447	hsa-miR-1323	CLIP-seq
MIRT2177947	hsa-miR-133a	CLIP-seq
MIRT2177948	hsa-miR-133b	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT808450	hsa-miR-298	CLIP-seq
MIRT2177949	hsa-miR-3074-3p	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT808454	hsa-miR-3678-3p	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT808458	hsa-miR-410	CLIP-seq
MIRT808459	hsa-miR-4269	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT808462	hsa-miR-4330	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT1938809	hsa-miR-448	CLIP-seq
MIRT808464	hsa-miR-4639-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT2177956	hsa-miR-4694-3p	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808474	hsa-miR-495	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT808478	hsa-miR-510	CLIP-seq
MIRT808479	hsa-miR-512-5p	CLIP-seq
MIRT808480	hsa-miR-513a-5p	CLIP-seq
MIRT2177959	hsa-miR-522	CLIP-seq
MIRT808487	hsa-miR-548o	CLIP-seq
MIRT808490	hsa-miR-582-5p	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT2177961	hsa-miR-668	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT808470	hsa-miR-4760-3p	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481458	hsa-miR-1179	CLIP-seq
MIRT2481459	hsa-miR-1206	CLIP-seq
MIRT2481460	hsa-miR-1266	CLIP-seq
MIRT2481461	hsa-miR-1290	CLIP-seq
MIRT2481462	hsa-miR-147	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT808448	hsa-miR-186	CLIP-seq
MIRT2481463	hsa-miR-2113	CLIP-seq
MIRT2481464	hsa-miR-300	CLIP-seq
MIRT808452	hsa-miR-3133	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT2481465	hsa-miR-338-5p	CLIP-seq
MIRT2481466	hsa-miR-3613-5p	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT2481467	hsa-miR-376a	CLIP-seq
MIRT2481468	hsa-miR-376b	CLIP-seq
MIRT2481469	hsa-miR-381	CLIP-seq
MIRT2481470	hsa-miR-382	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT808457	hsa-miR-3942-3p	CLIP-seq
MIRT2481471	hsa-miR-4270	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT2481472	hsa-miR-4436b-5p	CLIP-seq
MIRT2481473	hsa-miR-4441	CLIP-seq
MIRT2481474	hsa-miR-4457	CLIP-seq
MIRT2481475	hsa-miR-4503	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT2481476	hsa-miR-4518	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT2481477	hsa-miR-4659a-3p	CLIP-seq
MIRT2481478	hsa-miR-4659b-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2481479	hsa-miR-4666-3p	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT808468	hsa-miR-4699-3p	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT1938813	hsa-miR-4728-3p	CLIP-seq
MIRT2481480	hsa-miR-4778-3p	CLIP-seq
MIRT808473	hsa-miR-4799-5p	CLIP-seq
MIRT808475	hsa-miR-499-3p	CLIP-seq
MIRT808476	hsa-miR-499a-3p	CLIP-seq
MIRT2481481	hsa-miR-508-5p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT2481482	hsa-miR-520d-5p	CLIP-seq
MIRT2481483	hsa-miR-524-5p	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT2481484	hsa-miR-568	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481485	hsa-miR-599	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT808493	hsa-miR-759	CLIP-seq
MIRT2481486	hsa-miR-802	CLIP-seq
MIRT2481487	hsa-miR-889	CLIP-seq
MIRT2481460	hsa-miR-1266	CLIP-seq
MIRT2481461	hsa-miR-1290	CLIP-seq
MIRT2481462	hsa-miR-147	CLIP-seq
MIRT1938803	hsa-miR-148a	CLIP-seq
MIRT1938804	hsa-miR-148b	CLIP-seq
MIRT1938805	hsa-miR-152	CLIP-seq
MIRT2481463	hsa-miR-2113	CLIP-seq
MIRT2481464	hsa-miR-300	CLIP-seq
MIRT2177950	hsa-miR-3145-5p	CLIP-seq
MIRT2481465	hsa-miR-338-5p	CLIP-seq
MIRT2481466	hsa-miR-3613-5p	CLIP-seq
MIRT1938807	hsa-miR-3651	CLIP-seq
MIRT808455	hsa-miR-371b-5p	CLIP-seq
MIRT2481469	hsa-miR-381	CLIP-seq
MIRT2481470	hsa-miR-382	CLIP-seq
MIRT2177951	hsa-miR-3941	CLIP-seq
MIRT2481471	hsa-miR-4270	CLIP-seq
MIRT1938808	hsa-miR-4276	CLIP-seq
MIRT808461	hsa-miR-4307	CLIP-seq
MIRT2426559	hsa-miR-4325	CLIP-seq
MIRT2177952	hsa-miR-4422	CLIP-seq
MIRT2481472	hsa-miR-4436b-5p	CLIP-seq
MIRT2481473	hsa-miR-4441	CLIP-seq
MIRT2481474	hsa-miR-4457	CLIP-seq
MIRT1938811	hsa-miR-4517	CLIP-seq
MIRT2481476	hsa-miR-4518	CLIP-seq
MIRT808465	hsa-miR-4641	CLIP-seq
MIRT2481477	hsa-miR-4659a-3p	CLIP-seq
MIRT2481478	hsa-miR-4659b-3p	CLIP-seq
MIRT2177953	hsa-miR-466	CLIP-seq
MIRT2481479	hsa-miR-4666-3p	CLIP-seq
MIRT2177954	hsa-miR-4668-5p	CLIP-seq
MIRT1938812	hsa-miR-4670-3p	CLIP-seq
MIRT2177955	hsa-miR-4672	CLIP-seq
MIRT808467	hsa-miR-4698	CLIP-seq
MIRT2177957	hsa-miR-4716-3p	CLIP-seq
MIRT2177958	hsa-miR-4724-5p	CLIP-seq
MIRT2481480	hsa-miR-4778-3p	CLIP-seq
MIRT2481481	hsa-miR-508-5p	CLIP-seq
MIRT1938814	hsa-miR-5096	CLIP-seq
MIRT808485	hsa-miR-548c-3p	CLIP-seq
MIRT2481484	hsa-miR-568	CLIP-seq
MIRT808491	hsa-miR-587	CLIP-seq
MIRT2481485	hsa-miR-599	CLIP-seq
MIRT2177960	hsa-miR-625	CLIP-seq
MIRT808492	hsa-miR-664	CLIP-seq
MIRT2481486	hsa-miR-802	CLIP-seq
MIRT2481487	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IEA
GO:0002003	Process	Angiotensin maturation	IDA	12045255, 15746149
GO:0002003	Process	Angiotensin maturation	TAS
GO:0005515	Function	Protein binding	IPI	12045255, 20093472, 29127204, 30374053, 32296183
GO:0005764	Component	Lysosome	IDA	29127204
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	29127204
GO:0005886	Component	Plasma membrane	TAS
GO:0007042	Process	Lysosomal lumen acidification	IMP	32276428
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IDA	12045255, 15746149
GO:0010008	Component	Endosome membrane	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IMP	29127204, 30985297
GO:0021626	Process	Central nervous system maturation	IMP	30985297
GO:0021903	Process	Rostrocaudal neural tube patterning	IMP	20093472
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IBA	21873635
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	20093472
GO:0030424	Component	Axon	IEA
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032914	Process	Positive regulation of transforming growth factor beta1 production	IDA	16374430
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043408	Process	Regulation of MAPK cascade	IDA	12045255, 15746149
GO:0044297	Component	Cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048069	Process	Eye pigmentation	IMP	20093472
GO:0060323	Process	Head morphogenesis	IMP	20093472
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	30374053
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

Other IDs

• MIM: 300556
• HGNC: 18305
• e!Ensembl: ENSG00000182220

Protein

• UniProt ID: O75787
• Protein name: Renin receptor (ATPase H(+)-transporting lysosomal accessory protein 2) (ATPase H(+)-transporting lysosomal-interacting protein 2) (ER-localized type I transmembrane adapter) (Embryonic liver differentiation factor 10) (N14F) (Renin/prorenin receptor) (Va
• Protein function: Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, Pub
• PDB: 3LBS, 3LC8, 6WLW, 6WM2, 6WM3, 6WM4, 7U4T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07850	Renin_r	254 → 350	Renin receptor-like protein	Family

• Sequence:

  MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSW
  PGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEE
  TPVVLQLAPSEERVYMVGKANSVFEDLSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVD
  LLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDASKIL
  VDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYN
  FEYSVVFNMVLWIMIALALAVIITSYNIWNMDPGYDSIIYRMTNQKIRMD

• Sequence length: 350

Pathways

KEGG:

Renin-angiotensin system

Reactome:

Metabolism of Angiotensinogen to Angiotensins
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
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
Mental retardation, x-linked	X-linked intellectual disability, Hedera type	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Parkinson disease	Parkinsonian Disorders	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106
Parkinsonism-spasticity syndrome, x-linked	PARKINSONISM WITH SPASTICITY, X-LINKED, X-linked parkinsonism-spasticity syndrome	rs397518480	23595882
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Agraphesthesia	Agraphesthesia
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507	21795644
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Hypotonic seizures	Epileptic drop attack
Motor delay	Clumsiness - motor delay
Mental retardation with epilepsy,x-linked	Mental Retardation, X-Linked, with Epilepsy		23595882, 11782983, 15746149