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 212 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P22888 | pleiotropic | VAR_003560 | p.Ala593Pro | Disease | - | - | Luteinizing hormone resistance (LHR) [MIM:238320] |
P22888 | pleiotropic | VAR_010164 | p.Cys581Arg | Disease | - | - | Familial male precocious puberty (FMPP) [MIM:176410] |
Q8TAF8 | non-pleiotropic | VAR_032056 | p.Thr165Met | Disease | - | - | Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] |
Q8TAF8 | non-pleiotropic | VAR_032055 | p.Tyr127Cys | Disease | - | - | Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] |
Q8TAF8 | non-pleiotropic | VAR_032057 | p.Arg176Leu | Disease | - | - | Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265] |
Q9UBR4 | non-pleiotropic | VAR_063240 | p.Ala210Val | Disease | - | - | Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750] |
Q9UBR4 | non-pleiotropic | VAR_010713 | p.Tyr111Cys | Disease | - | - | Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750] |
Q969G2 | non-pleiotropic | VAR_058717 | p.Ala210Pro | Disease | - | - | Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] |
Q969G2 | non-pleiotropic | VAR_058716 | p.Leu190Arg | Disease | - | - | Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] |
Q969G2 | non-pleiotropic | VAR_063241 | p.Pro389Thr | Disease | rs145433128 | 0.001 | Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] |
Q969G2 | non-pleiotropic | VAR_046661 | p.Asn328Ser | Non-Disease | rs7536561 | 0.4458 | - |
Q969G2 | non-pleiotropic | VAR_058715 | p.Arg84Cys | Disease | - | - | Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] |
O43766 | non-pleiotropic | VAR_067839 | p.Arg249His | Disease | rs144133667 | - | Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) [MIM:614462] |
P42702 | non-pleiotropic | VAR_029109 | p.His116Tyr | Non-Disease | rs3729734 | 0.0239 | - |
P42702 | non-pleiotropic | VAR_021996 | p.Ile633Met | Non-Disease | rs2303743 | 0.011 | - |
P42702 | non-pleiotropic | VAR_025666 | p.Ser279Pro | Disease | - | - | Stueve-Wiedemann syndrome (STWS) [MIM:601559] |
P42702 | non-pleiotropic | VAR_029111 | p.Val785Ile | Non-Disease | rs3110234 | 0.1437 | - |
P42702 | non-pleiotropic | VAR_029110 | p.Asp578Asn | Non-Disease | rs3729740 | 0.0629 | - |
P42702 | non-pleiotropic | VAR_038626 | p.Ser664Leu | Non-Disease | rs3729744 | 0.0032 | - |
P55344 | non-pleiotropic | VAR_069796 | p.Phe105Val | Disease | - | - | Cataract 19 (CTRCT19) [MIM:615277] |
Q99732 | non-pleiotropic | VAR_024020 | p.Leu122Val | Disease | - | - | Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] |
Q99732 | non-pleiotropic | VAR_024017 | p.Gly112Ser | Disease | - | - | Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] |
Q99732 | non-pleiotropic | VAR_024015 | p.Thr49Met | Disease | rs141862602 | 0.0004 | Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] |
Q99732 | non-pleiotropic | VAR_024016 | p.Ile92Val | Non-Disease | rs4280262 | 0.129 | - |
Q99732 | non-pleiotropic | VAR_024018 | p.Thr115Asn | Disease | - | - | Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] |
Q99732 | non-pleiotropic | VAR_024019 | p.Trp116Gly | Disease | - | - | Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] |
P02545 | pleiotropic | VAR_039789 | p.Ser573Leu | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] |
P02545 | pleiotropic | VAR_039754 | p.Arg50Ser | Disease | rs59931416 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009994 | p.Lys486Asn | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_063588 | p.Asn39Ser | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_039765 | p.Asp192Gly | Disease | rs57045855 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_009975 | p.Leu85Arg | Disease | rs28933090 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039779 | p.Arg435Cys | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_009983 | p.Arg336Gln | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039764 | p.Arg190Trp | Disease | rs59026483 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_064966 | p.Leu271Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009990 | p.Ile469Thr | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039784 | p.Trp520Ser | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009988 | p.Arg453Trp | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_017662 | p.Arg471Cys | Disease | rs28928902 | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_064976 | p.Gly602Ser | Disease | rs60662302 | 0.001 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009979 | p.His222Tyr | Disease | rs28928901 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039780 | p.Asp446Val | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_064967 | p.Ser295Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_070177 | p.Ile210Ser | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039750 | p.Glu33Asp | Non-Disease | rs57966821 | - | - |
P02545 | pleiotropic | VAR_039759 | p.Lys97Glu | Disease | rs59065411 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039770 | p.Asp230Asn | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_070180 | p.Arg388His | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039758 | p.Arg89Leu | Disease | rs59040894 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |