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 117 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9NQT5 non-pleiotropic VAR_068505 p.Gly31Ala Disease - - Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q9NQT5 non-pleiotropic VAR_054098 p.Tyr225His Non-Disease rs3208406 0.0459 -
Q9NQT5 non-pleiotropic VAR_068507 p.Ala139Pro Disease - - Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q9NQT5 non-pleiotropic VAR_068506 p.Asp132Ala Disease rs141138948 - Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]
Q93063 non-pleiotropic VAR_012825 p.Arg179Ser Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063 non-pleiotropic VAR_033921 p.Met42Val Non-Disease rs4755779 0.011 -
Q93063 non-pleiotropic VAR_002378 p.Asp227Asn Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063 non-pleiotropic VAR_012824 p.Leu152Arg Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063 non-pleiotropic VAR_012828 p.Ile380Thr Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063 non-pleiotropic VAR_012823 p.Cys85Arg Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063 non-pleiotropic VAR_012827 p.Arg223Pro Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q93063 non-pleiotropic VAR_012826 p.Ala202Val Disease - - Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
Q5T1H1 non-pleiotropic VAR_064418 p.Gly2017Val Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063466 p.Pro1739Leu Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063458 p.Lys1365Glu Non-Disease rs16895519 0.0083 -
Q5T1H1 non-pleiotropic VAR_063467 p.Glu1747Gly Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063480 p.Leu2189Pro Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063446 p.Gly631Ser Non-Disease rs9342464 0.3944 -
Q5T1H1 non-pleiotropic VAR_035301 p.Thr120Met Non-Disease rs12193967 0.1846 -
Q5T1H1 non-pleiotropic VAR_063457 p.Ile1361Val Non-Disease rs17403955 0.0996 -
Q5T1H1 non-pleiotropic VAR_063454 p.Ile1232Phe Disease rs190009374 0.001 Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063469 p.Trp1837Ser Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_043561 p.Leu852Pro Non-Disease rs9294631 0.3889 -
Q5T1H1 non-pleiotropic VAR_063478 p.Cys2139Tyr Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063443 p.Arg551Leu Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063461 p.Arg1515Trp Non-Disease rs62415827 0.0978 -
Q5T1H1 non-pleiotropic VAR_063455 p.Ile1263Val Non-Disease - 0.0978 -
Q5T1H1 non-pleiotropic VAR_063488 p.Cys2911Tyr Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063442 p.Lys532Asn Non-Disease rs61753611 0.0046 -
Q5T1H1 non-pleiotropic VAR_063450 p.Lys938Arg Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063448 p.Asn745Ser Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063472 p.Asn1902Ile Non-Disease rs9353806 0.3122 -
Q5T1H1 non-pleiotropic VAR_063483 p.Ser2556Cys Non-Disease - 0.1079 -
Q5T1H1 non-pleiotropic VAR_063476 p.Ile1999Val Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063452 p.Asn1163Lys Non-Disease rs150951106 0.0032 -
Q5T1H1 non-pleiotropic VAR_063464 p.Thr1664Ile Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063479 p.Asn2151Ser Non-Disease rs141603172 0.0055 -
Q5T1H1 non-pleiotropic VAR_063453 p.Cys1176Arg Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063449 p.Val834Ile Non-Disease rs112464110 0.0051 -
Q5T1H1 non-pleiotropic VAR_063440 p.Val136Phe Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063465 p.Asp1682Tyr Disease rs75831552 0.012 Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063437 p.Pro94Gln Non-Disease rs111947397 0.0028 -
Q5T1H1 non-pleiotropic VAR_063477 p.Val2040Asp Non-Disease - - -
Q5T1H1 non-pleiotropic VAR_063447 p.Glu641Val Non-Disease rs17411795 0.1042 -
Q5T1H1 non-pleiotropic VAR_064420 p.Gln2945Glu Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063460 p.Ile1451Thr Non-Disease rs62415828 0.0987 -
Q5T1H1 non-pleiotropic VAR_063462 p.Ser1517Gly Non-Disease rs62415826 0.0978 -
Q5T1H1 non-pleiotropic VAR_063444 p.Gln571Arg Non-Disease rs61753610 0.1203 -
Q5T1H1 non-pleiotropic VAR_064419 p.Glu2503Lys Disease - - Retinitis pigmentosa 25 (RP25) [MIM:602772]
Q5T1H1 non-pleiotropic VAR_063482 p.Arg2326Gln Non-Disease rs4710457 0.3485 -