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 62 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9H251 | pleiotropic | VAR_012167 | p.Gly490Ala | Non-Disease | rs1227049 | 0.1853 | - |
Q9H251 | pleiotropic | VAR_046437 | p.Val2968Ala | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_012182 | p.Asp2045Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046412 | p.Arg1236Gln | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027336 | p.Asp2148Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027324 | p.Gly1186Asp | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027332 | p.Thr1887Ile | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027317 | p.Asp124Gly | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_012177 | p.Val1675Ile | Non-Disease | rs17712523 | 0.1322 | - |
Q9H251 | pleiotropic | VAR_046424 | p.Asp1930Asn | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046418 | p.Gln1716Pro | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_012169 | p.Asp990Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027339 | p.Arg2465Trp | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046434 | p.Gly2771Ser | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_012170 | p.Ala1222Thr | Non-Disease | rs41281316 | 0.0108 | - |
Q9H251 | pleiotropic | VAR_012166 | p.Arg3Cys | Non-Disease | rs7902757 | 0.1107 | - |
Q9H251 | pleiotropic | VAR_012168 | p.Ser496Asn | Non-Disease | rs10999947 | 0.2524 | - |
Q9H251 | pleiotropic | VAR_046433 | p.Ile2669Val | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027326 | p.Asp1341Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046422 | p.Val1908Ile | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027341 | p.Arg2608His | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_012172 | p.Arg1349Cys | Non-Disease | rs41281318 | 0.0018 | - |
Q9H251 | pleiotropic | VAR_024033 | p.Arg3189Trp | Disease | - | - | Usher syndrome 1D/F (USH1DF) [MIM:601067] Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_012187 | p.Ile2950Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027340 | p.Ser2517Gly | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
P22223 | pleiotropic | VAR_031931 | p.Gln563His | Non-Disease | rs1126933 | 0.3567 | - |
P22223 | pleiotropic | VAR_015422 | p.Arg503His | Disease | - | - | Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553] |
P22223 | pleiotropic | VAR_031930 | p.Arg477His | Non-Disease | rs34494880 | 0.0289 | - |
P22223 | pleiotropic | VAR_033010 | p.Asn322Ile | Disease | - | - | Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) [MIM:225280] |
P22223 | pleiotropic | VAR_031929 | p.Val237Met | Non-Disease | rs17854171 | - | - |
P11802 | non-pleiotropic | VAR_029153 | p.Arg82Gln | Non-Disease | rs3211612 | - | - |
P11802 | non-pleiotropic | VAR_006201 | p.Arg24His | Disease | - | - | Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] |
P11802 | non-pleiotropic | VAR_006200 | p.Arg24Cys | Disease | rs11547328 | - | Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] |
P11802 | non-pleiotropic | VAR_021152 | p.Asn41Ser | Disease | - | - | Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] |
P11802 | non-pleiotropic | VAR_041976 | p.Arg122His | Non-Disease | rs34386532 | 0.0002 | - |
P42771 | pleiotropic | VAR_001463 | p.Ala100Pro | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_001460 | p.Arg99Pro | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001423 | p.Gln50Arg | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001472 | p.Ala118Thr | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001462 | p.Ala100Leu | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_035069 | p.Gly122Arg | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001453 | p.Gly89Asp | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_053029 | p.His83Gln | Non-Disease | rs34968276 | - | - |
P42771 | pleiotropic | VAR_053030 | p.Arg99Trp | Non-Disease | rs34886500 | - | - |
P42771 | pleiotropic | VAR_053031 | p.Ala102Thr | Non-Disease | rs35741010 | - | - |
P42771 | pleiotropic | VAR_001457 | p.Leu97Arg | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001432 | p.Ala68Leu | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |
P42771 | pleiotropic | VAR_001422 | p.Ile49Thr | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_001428 | p.Ala60Thr | Non-Disease | - | - | - |
P42771 | pleiotropic | VAR_001420 | p.Pro48Leu | Disease | - | - | Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] |