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 270 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q8TAB3 non-pleiotropic VAR_064486 p.Asn340Ser Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064846 p.Pro561Arg Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064485 p.Ser276Pro Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064488 p.Thr404Ile Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067477 p.Asn232Ser Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064845 p.Asp341Glu Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064492 p.Arg1107Gly Non-Disease - 0.0 -
Q8TAB3 non-pleiotropic VAR_067473 p.Val72Gly Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064491 p.Arg958Gln Non-Disease - - -
Q8TAB3 non-pleiotropic VAR_067478 p.Asn234Ser Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067476 p.Val191Leu Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067484 p.Gly513Arg Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064490 p.Leu543Pro Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064844 p.Glu249Asp Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064847 p.Pro567Leu Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064481 p.Asp121Asn Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067475 p.Leu190Arg Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_046485 p.Asn557Lys Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067485 p.Val642Met Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064484 p.Phe206Cys Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067488 p.Arg1107His Non-Disease rs200021840 0.0006 -
Q8TAB3 non-pleiotropic VAR_067486 p.Arg980Cys Non-Disease rs3764758 0.0193 -
Q8TAB3 non-pleiotropic VAR_067472 p.Leu25Pro Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067489 p.Asn1134His Non-Disease rs141816797 0.0067 -
Q8TAB3 non-pleiotropic VAR_064489 p.Glu414Gln Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067487 p.Leu1094Val Non-Disease rs184545774 0.0006 -
Q8TAB3 non-pleiotropic VAR_064482 p.Glu199Gln Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067482 p.Asp377Glu Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_067483 p.Leu433Pro Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
Q8TAB3 non-pleiotropic VAR_064843 p.Phe206Tyr Disease - - Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]
P49585 non-pleiotropic VAR_071087 p.Phe191Leu Disease - - Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585 non-pleiotropic VAR_071085 p.Glu129Lys Disease - - Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585 non-pleiotropic VAR_071083 p.Ala99Thr Disease - - Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585 non-pleiotropic VAR_071084 p.Ala99Val Disease - - Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585 non-pleiotropic VAR_071086 p.Pro150Ala Disease - - Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P49585 non-pleiotropic VAR_071088 p.Arg223Ser Disease - - Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
P16499 non-pleiotropic VAR_025463 p.Val277Ala Non-Disease - - -
P16499 non-pleiotropic VAR_047730 p.Ala145Thr Non-Disease rs35431421 0.0078 -
P16499 non-pleiotropic VAR_025462 p.Asn216Ser Non-Disease rs10057110 0.0344 -
P16499 non-pleiotropic VAR_025460 p.Arg102His Disease - - Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499 non-pleiotropic VAR_025468 p.Lys827Gln Non-Disease - - -
P16499 non-pleiotropic VAR_025467 p.Ser573Pro Disease - - Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499 non-pleiotropic VAR_025466 p.Gln569Lys Disease - - Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499 non-pleiotropic VAR_047731 p.Gln492His Non-Disease rs17711594 0.0026 -
P16499 non-pleiotropic VAR_025469 p.Gly850Val Non-Disease rs138315990 0.0009 -
P16499 non-pleiotropic VAR_025465 p.Val391Met Non-Disease rs61732059 0.0124 -
P16499 non-pleiotropic VAR_025461 p.Arg102Ser Disease - - Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499 non-pleiotropic VAR_006049 p.Ser344Arg Disease - - Retinitis pigmentosa 43 (RP43) [MIM:613810]
P16499 non-pleiotropic VAR_025464 p.Pro293Leu Non-Disease rs114973968 0.0037 -
P35913 pleiotropic VAR_068361 p.Arg100His Disease - - Retinitis pigmentosa 40 (RP40) [MIM:613801]