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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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 15 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P55265 pleiotropic VAR_069539 p.Lys999Asn Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_069538 p.Arg892His Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_024407 p.Tyr587Cys Non-Disease rs17843865 0.0119 -
P55265 pleiotropic VAR_017605 p.Phe1165Ser Disease rs28936681 - Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55265 pleiotropic VAR_069541 p.Tyr1112Phe Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_069540 p.Gly1007Arg Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_069535 p.Pro193Ala Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_017240 p.Lys384Arg Non-Disease rs2229857 0.3797 -
P55265 pleiotropic VAR_069536 p.Ala870Thr Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_017604 p.Leu923Pro Disease rs28936680 - Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55265 pleiotropic VAR_069537 p.Ile872Thr Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_026669 p.Arg1155Trp Disease - - Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
P55265 pleiotropic VAR_048725 p.Arg100Gly Non-Disease rs1466731 0.0023 -
P55265 pleiotropic VAR_069542 p.Asp1113His Disease - - Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
P55265 pleiotropic VAR_021729 p.Cys966Phe Disease - - Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
Q96EY9 non-pleiotropic VAR_069778 p.Val128Met Disease - - Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]
Q8NI60 non-pleiotropic VAR_044404 p.Gly272Val Disease - - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60 non-pleiotropic VAR_044407 p.Glu551Lys Disease - - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60 non-pleiotropic VAR_044406 p.Gly549Ser Disease - - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60 non-pleiotropic VAR_020319 p.His85Gln Non-Disease rs2297411 0.0395 -
Q8NI60 non-pleiotropic VAR_044402 p.Arg213Trp Disease - - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60 non-pleiotropic VAR_045576 p.Ile341Thr Non-Disease rs55798516 - -
Q8NI60 non-pleiotropic VAR_044405 p.Tyr514Cys Disease - - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q8NI60 non-pleiotropic VAR_044403 p.Gly272Asp Disease - - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
Q96D53 non-pleiotropic VAR_041423 p.Thr462Met Non-Disease rs56083906 - -
Q96D53 non-pleiotropic VAR_041422 p.Thr352Arg Non-Disease rs36012476 0.0239 -
Q96D53 non-pleiotropic VAR_070553 p.Asp286Gly Disease - - Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53 non-pleiotropic VAR_041421 p.Thr318Met Non-Disease rs55899516 0.0009 -
Q96D53 non-pleiotropic VAR_070552 p.Arg178Trp Disease - - Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53 non-pleiotropic VAR_041420 p.Arg78Cys Non-Disease rs11538384 0.0165 -
Q96D53 non-pleiotropic VAR_070556 p.Arg477Gln Disease - - Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53 non-pleiotropic VAR_029995 p.His174Arg Non-Disease rs3865452 0.4619 -
Q96D53 non-pleiotropic VAR_070555 p.Arg343Trp Disease - - Nephrotic syndrome 9 (NPHS9) [MIM:615573]
Q96D53 non-pleiotropic VAR_070554 p.Arg320Trp Disease - - Nephrotic syndrome 9 (NPHS9) [MIM:615573]
O95622 non-pleiotropic VAR_068821 p.Ala726Thr Disease - - Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
Q15848 non-pleiotropic VAR_013275 p.Val117Met Non-Disease - - -
Q15848 non-pleiotropic VAR_027395 p.Gly90Ser Non-Disease rs62625753 0.0028 -
Q15848 non-pleiotropic VAR_027396 p.Tyr111His Non-Disease rs17366743 0.017 -
Q15848 non-pleiotropic VAR_013274 p.Arg112Cys Disease - - Adiponectin deficiency (ADPND) [MIM:612556]
Q15848 non-pleiotropic VAR_013277 p.Arg221Ser Non-Disease rs138773406 0.0018 -
Q15848 non-pleiotropic VAR_013276 p.Ile164Thr Non-Disease rs185847354 0.0005 -
Q15848 non-pleiotropic VAR_013278 p.His241Pro Non-Disease rs141205818 0.0018 -
P55263 non-pleiotropic VAR_066642 p.Ala318Glu Disease - - Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
P55263 non-pleiotropic VAR_066641 p.Asp235Ala Disease - - Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
P55263 non-pleiotropic VAR_066640 p.Gly30Glu Disease - - Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
P30566 non-pleiotropic VAR_037883 p.Ser31Asn Non-Disease rs5757921 - -
P30566 non-pleiotropic VAR_017083 p.Leu311Val Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017084 p.Pro318Leu Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_016930 p.Ala2Val Disease rs143083947 0.0002 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007976 p.Arg303Cys Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]