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 283 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P08F94 | non-pleiotropic | VAR_018522 | p.Gly223Ser | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018570 | p.Tyr2863Cys | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018541 | p.Ala1030Glu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018588 | p.Val3440Asp | Non-Disease | - | - | - |
P08F94 | non-pleiotropic | VAR_018524 | p.Gly326Val | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_027442 | p.Ile3905Asn | Non-Disease | rs2661488 | 0.0294 | - |
P08F94 | non-pleiotropic | VAR_018543 | p.Tyr1136Cys | Non-Disease | rs41273726 | 0.0051 | - |
P08F94 | non-pleiotropic | VAR_018564 | p.Ala2615Gly | Non-Disease | - | - | - |
P08F94 | non-pleiotropic | VAR_018590 | p.Val3471Gly | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_014052 | p.Ser1664Phe | Disease | rs28937907 | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018552 | p.Val1789Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_014055 | p.Glu1995Gly | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_014061 | p.Ile3553Thr | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018592 | p.Glu3502Val | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018597 | p.Pro3783Ser | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066435 | p.Gly2224Arg | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018581 | p.Ile3167Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018573 | p.Ser2983Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018594 | p.Glu3529Gln | Disease | rs145184792 | 0.0122 | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018548 | p.Pro1486Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066420 | p.Ala293Val | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018553 | p.Ser1833Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066417 | p.Ile246Thr | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018560 | p.Val2032Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_014054 | p.Gln1917Arg | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066430 | p.Trp1928Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018529 | p.Arg488Pro | Non-Disease | - | - | - |
P08F94 | non-pleiotropic | VAR_018569 | p.Ser2861Gly | Disease | rs150925674 | 0.0012 | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018585 | p.Ser3289Ile | Non-Disease | rs148932323 | 0.0046 | - |
P08F94 | non-pleiotropic | VAR_018530 | p.Arg496Pro | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018536 | p.Ile757Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066422 | p.Gly470Val | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066432 | p.Leu2106Arg | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018591 | p.Arg3482Cys | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_014062 | p.Val3960Ile | Non-Disease | rs34548196 | 0.0092 | - |
P08F94 | non-pleiotropic | VAR_018589 | p.Ile3468Val | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018568 | p.Leu2772Pro | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018538 | p.Asn830Ser | Non-Disease | - | 0.0579 | - |
P08F94 | non-pleiotropic | VAR_018561 | p.Leu2134Pro | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018563 | p.Cys2422Gly | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018520 | p.Ala17Val | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018567 | p.Asp2761Tyr | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066434 | p.Ser2219Leu | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066438 | p.Arg2573Cys | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018558 | p.Gly1971Asp | Disease | rs180675584 | 0.0002 | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018577 | p.Asp3088Asn | Non-Disease | - | - | - |
P08F94 | non-pleiotropic | VAR_018562 | p.Ile2303Phe | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066440 | p.Val2798Gly | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_066428 | p.Val1817Gly | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |
P08F94 | non-pleiotropic | VAR_018587 | p.Cys3346Arg | Disease | - | - | Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] |