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 55 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P20807 | non-pleiotropic | VAR_009554 | p.Arg118Gly | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009590 | p.Arg572Trp | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009561 | p.Ser215Pro | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009585 | p.Arg493Trp | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009569 | p.Pro319Leu | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_001369 | p.Ser744Gly | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009594 | p.Ala702Val | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009558 | p.Thr184Met | Disease | rs35889956 | 0.0092 | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009583 | p.Arg489Trp | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009595 | p.Asp705Gly | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009571 | p.Tyr336Asn | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009559 | p.Leu189Pro | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009598 | p.Arg748Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009573 | p.Arg437Cys | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009570 | p.His334Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009575 | p.Gly441Asp | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009560 | p.Gly214Ser | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009580 | p.Ser479Gly | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009586 | p.Gly496Arg | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009588 | p.Arg541Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_001370 | p.Arg769Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009549 | p.Pro26Leu | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009555 | p.Cys137Arg | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009597 | p.Phe731Ser | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009572 | p.Trp360Cys | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009548 | p.Val4Ile | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009557 | p.Pro183Leu | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009564 | p.Gly222Arg | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009553 | p.Glu107Lys | Non-Disease | rs1801505 | 0.0041 | - |
P20807 | non-pleiotropic | VAR_009587 | p.Ile502Thr | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009567 | p.Ala236Thr | Non-Disease | rs1801449 | 0.2213 | - |
P20807 | non-pleiotropic | VAR_001368 | p.Arg572Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_022272 | p.Gly21Glu | Non-Disease | rs28364364 | 0.0069 | - |
P20807 | non-pleiotropic | VAR_015389 | p.Ala160Gly | Non-Disease | rs17592 | 0.0152 | - |
P20807 | non-pleiotropic | VAR_009578 | p.Arg448Gly | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009563 | p.Glu217Lys | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
O15484 | non-pleiotropic | VAR_069278 | p.Leu244Pro | Disease | - | - | Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] |
O15484 | non-pleiotropic | VAR_069277 | p.Arg243Leu | Disease | - | - | Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] |
Q9BXL7 | non-pleiotropic | VAR_069710 | p.Gly123Ser | Disease | - | - | Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445] |
Q9BXL7 | non-pleiotropic | VAR_028118 | p.Ser694Leu | Non-Disease | rs3735133 | 0.0002 | - |
Q9BXL7 | non-pleiotropic | VAR_028117 | p.Thr670Met | Non-Disease | rs3735134 | - | - |
Q9BXL7 | non-pleiotropic | VAR_069711 | p.Glu134Gly | Disease | - | - | Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445] |
Q9H257 | non-pleiotropic | VAR_070828 | p.Gly72Ser | Disease | - | - | Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
Q9H257 | non-pleiotropic | VAR_070830 | p.Arg373Pro | Disease | - | - | Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
Q9H257 | non-pleiotropic | VAR_048607 | p.Ser12Asn | Non-Disease | rs4077515 | 0.3669 | - |
Q9H257 | non-pleiotropic | VAR_070829 | p.Arg101Cys | Disease | - | - | Candidiasis, familial, 2 (CANDF2) [MIM:212050] |
Q8NG31 | non-pleiotropic | VAR_026430 | p.Thr113Ala | Non-Disease | rs12911738 | 0.2994 | - |
Q8NG31 | non-pleiotropic | VAR_061569 | p.Leu1190Val | Non-Disease | rs58614880 | 0.0028 | - |
Q8NG31 | non-pleiotropic | VAR_026432 | p.Arg936Gly | Non-Disease | rs8040502 | 0.2994 | - |
Q8NG31 | non-pleiotropic | VAR_026433 | p.Lys1285Glu | Non-Disease | rs17747633 | 0.2273 | - |