Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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] |