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 197 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P78504 pleiotropic VAR_026321 p.Pro269Leu Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026313 p.Pro163Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026315 p.Cys187Tyr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013200 p.Gly274Asp Disease rs28939668 - Tetralogy of Fallot (TOF) [MIM:187500]
P78504 pleiotropic VAR_013198 p.Cys229Gly Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
O60674 pleiotropic VAR_041716 p.Gly127Asp Non-Disease rs56118985 0.0023 -
O60674 pleiotropic VAR_041720 p.Leu393Val Non-Disease rs2230723 0.0133 -
O60674 pleiotropic VAR_032697 p.Val617Phe Disease - - Leukemia, acute myelogenous (AML) [MIM:601626]
Polycythemia vera (PV) [MIM:263300]
Thrombocythemia 3 (THCYT3) [MIM:614521]
O60674 pleiotropic VAR_043129 p.Asp584Glu Non-Disease rs17490221 - -
O60674 pleiotropic VAR_041721 p.Arg1063His Non-Disease rs41316003 0.0032 -
O60674 pleiotropic VAR_067534 p.Val617Ile Disease - - Thrombocythemia 3 (THCYT3) [MIM:614521]
O60674 pleiotropic VAR_032696 p.Lys607Asn Disease - - Leukemia, acute myelogenous (AML) [MIM:601626]
O60674 pleiotropic VAR_041718 p.Lys346Arg Non-Disease rs55667734 - -
O60674 pleiotropic VAR_041719 p.Ala377Glu Non-Disease rs55953208 - -
Q9BX67 non-pleiotropic VAR_069529 p.Glu116Lys Disease - - Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]
Q9BX67 non-pleiotropic VAR_069530 p.Cys219Tyr Disease - - Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]
Q9BR39 non-pleiotropic VAR_065475 p.Gly505Ser Non-Disease rs140740776 0.0129 -
Q9BR39 non-pleiotropic VAR_065471 p.Ser101Arg Disease - - Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39 non-pleiotropic VAR_065472 p.Tyr141His Disease - - Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39 non-pleiotropic VAR_065474 p.Arg436Cys Non-Disease - - -
Q9BR39 non-pleiotropic VAR_065473 p.Ser165Phe Disease - - Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]
Q9BR39 non-pleiotropic VAR_053447 p.Ala396Thr Non-Disease rs3810510 0.2415 -
P23352 non-pleiotropic VAR_031020 p.Arg668His Non-Disease - - -
P23352 non-pleiotropic VAR_031017 p.Phe517Leu Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_065364 p.Glu539Lys Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_012742 p.Glu514Lys Disease rs28937309 - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_007720 p.Asn267Lys Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_031013 p.Cys172Arg Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_065363 p.Cys163Arg Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_031015 p.Asn304Ser Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_069968 p.Val587Leu Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_031012 p.Cys163Tyr Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_007721 p.Val534Ile Non-Disease rs808119 0.4486 -
P23352 non-pleiotropic VAR_065362 p.Cys134Gly Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_031019 p.Lys666Met Non-Disease - - -
P23352 non-pleiotropic VAR_031018 p.Trp571Arg Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_031014 p.Arg262Pro Disease - - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
P23352 non-pleiotropic VAR_031016 p.Ser396Leu Disease rs137852517 0.0005 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]
Q15046 pleiotropic VAR_016105 p.Thr595Ser Non-Disease rs6834 0.107 -
Q15046 pleiotropic VAR_064912 p.Ile274Met Disease - - Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]
Q15046 pleiotropic VAR_052640 p.Gly179Ala Non-Disease rs11557665 - -
Q15046 pleiotropic VAR_070234 p.Asp349Asn Disease - - Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]
Q15046 pleiotropic VAR_070233 p.Tyr145His Disease - - Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]
Q15046 pleiotropic VAR_064911 p.Leu105His Disease - - Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]
C9JR72 non-pleiotropic VAR_064891 p.Arg408Cys Disease - - Nemaline myopathy 6 (NEM6) [MIM:609273]
C9JR72 non-pleiotropic VAR_064890 p.Lys390Asn Disease - - Nemaline myopathy 6 (NEM6) [MIM:609273]
C9JR72 non-pleiotropic VAR_064889 p.Arg248Ser Disease - - Nemaline myopathy 6 (NEM6) [MIM:609273]
Q09470 non-pleiotropic VAR_020833 p.Leu329Ile Disease - - Episodic ataxia 1 (EA1) [MIM:160120]
Q09470 non-pleiotropic VAR_037102 p.Ala242Pro Disease rs28933381 - Myokymia isolated 1 (MK1) [MIM:160120]
Q09470 non-pleiotropic VAR_001509 p.Ile177Arg Disease - - Episodic ataxia 1 (EA1) [MIM:160120]