Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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UniProtID
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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 165 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q06210 non-pleiotropic VAR_065350 p.Arg514Trp Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065344 p.Val199Phe Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065346 p.Arg403His Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065345 p.Asp366Tyr Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065343 p.Ile121Thr Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065348 p.Met509Thr Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065341 p.Asp43Val Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065349 p.Met510Thr Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065340 p.Thr15Met Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065339 p.Thr15Ala Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q06210 non-pleiotropic VAR_065351 p.Arg530Trp Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]
Q02643 non-pleiotropic VAR_015798 p.Ala222Glu Disease - - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
Q02643 non-pleiotropic VAR_015800 p.Lys329Glu Disease - - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
Q02643 non-pleiotropic VAR_033963 p.Glu121Asp Non-Disease rs4988498 0.0684 -
Q02643 non-pleiotropic VAR_015799 p.Phe242Cys Disease - - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
Q02643 non-pleiotropic VAR_033962 p.Ala57Thr Non-Disease rs4988496 0.1162 -
Q02643 non-pleiotropic VAR_015796 p.Leu144His Disease rs121918118 0.0002 Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
Q02643 non-pleiotropic VAR_033964 p.Val225Ile Non-Disease rs28371560 0.0142 -
Q02643 non-pleiotropic VAR_015797 p.Ala176Val Disease - - Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]
Q02643 non-pleiotropic VAR_033965 p.Met422Thr Non-Disease rs2228078 0.028 -
Q92847 non-pleiotropic VAR_032705 p.Ala204Glu Disease - - Short stature, idiopathic, autosomal (ISSA) [MIM:604271]
Q92847 non-pleiotropic VAR_049389 p.Thr5Ile Non-Disease rs2232165 0.0347 -
P27352 non-pleiotropic VAR_022742 p.Gln23Arg Non-Disease rs35211634 0.0849 -
P27352 non-pleiotropic VAR_048753 p.Gly65Arg Non-Disease rs11825834 0.0041 -
P27352 non-pleiotropic VAR_022743 p.Ser46Leu Disease - - Hereditary intrinsic factor deficiency (IFD) [MIM:261000]
P27352 non-pleiotropic VAR_022744 p.Asn255Ser Non-Disease rs35867471 0.0174 -
Q6Y7W6 non-pleiotropic VAR_044444 p.Pro460Thr Non-Disease rs2289912 0.09 -
Q6Y7W6 non-pleiotropic VAR_044446 p.His1171Arg Non-Disease rs72554081 0.0005 -
Q6Y7W6 non-pleiotropic VAR_044443 p.Asn457Thr Disease rs116074753 0.0002 Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6 non-pleiotropic VAR_044440 p.Thr112Ala Disease - - Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6 non-pleiotropic VAR_044442 p.Ser335Thr Disease - - Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6 non-pleiotropic VAR_044449 p.Val1242Ile Disease - - Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6 non-pleiotropic VAR_044445 p.Asp606Glu Disease - - Parkinson disease 11 (PARK11) [MIM:607688]
Q6Y7W6 non-pleiotropic VAR_051268 p.Pro423Leu Non-Disease rs34845648 0.0078 -
Q6Y7W6 non-pleiotropic VAR_044441 p.Ile278Val Disease rs118203904 0.0002 Parkinson disease 11 (PARK11) [MIM:607688]
Q8TF64 non-pleiotropic VAR_065969 p.Gly94Asp Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64 non-pleiotropic VAR_065967 p.Gly46Arg Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64 non-pleiotropic VAR_065973 p.Leu262Arg Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64 non-pleiotropic VAR_065972 p.Gly256Asp Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64 non-pleiotropic VAR_065970 p.Arg189Cys Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64 non-pleiotropic VAR_065968 p.Met88Ile Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
Q8TF64 non-pleiotropic VAR_065971 p.Thr221Ile Disease - - Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]
P17302 pleiotropic VAR_032924 p.Arg362Gln Disease rs2227885 0.0002 Atrioventricular septal defect 3 (AVSD3) [MIM:600309]
Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]
P17302 pleiotropic VAR_059013 p.Thr326Ala Non-Disease - - -
P17302 pleiotropic VAR_015757 p.Tyr98Cys Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_038356 p.Ser27Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_058990 p.Gly2Val Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_059001 p.Val96Met Disease rs28931601 - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_015755 p.Arg76Ser Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
P17302 pleiotropic VAR_058998 p.His95Arg Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]