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 91 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P50416 | non-pleiotropic | VAR_046769 | p.Gly465Trp | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P50416 | non-pleiotropic | VAR_020550 | p.Arg357Trp | Disease | - | - | Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] |
P78560 | non-pleiotropic | VAR_067536 | p.Gly128Arg | Disease | - | - | Mental retardation, autosomal recessive 34 (MRT34) [MIM:614499] |
Q92793 | non-pleiotropic | VAR_035080 | p.Glu1278Lys | Disease | - | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
Q92793 | non-pleiotropic | VAR_037305 | p.Tyr1175Cys | Disease | rs28937315 | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
Q92793 | non-pleiotropic | VAR_035081 | p.Thr1447Ile | Disease | - | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
Q92793 | non-pleiotropic | VAR_035083 | p.His1470Arg | Disease | - | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
Q92793 | non-pleiotropic | VAR_035082 | p.Tyr1450His | Disease | - | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
Q92793 | non-pleiotropic | VAR_027953 | p.Val1414Ile | Non-Disease | rs130015 | - | - |
Q92793 | non-pleiotropic | VAR_035084 | p.Arg1664His | Disease | - | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
Q92793 | non-pleiotropic | VAR_015578 | p.Arg1378Pro | Disease | - | - | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] |
O75462 | non-pleiotropic | VAR_033113 | p.Trp76Gly | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070822 | p.Ser145Pro | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070819 | p.Asn113Ile | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070827 | p.Arg340Cys | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070820 | p.Leu114Pro | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070817 | p.Leu74Pro | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_028355 | p.Arg176Lys | Non-Disease | rs11672248 | - | - |
O75462 | non-pleiotropic | VAR_017865 | p.Arg81His | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_017866 | p.Leu374Arg | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070821 | p.Pro138Leu | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070825 | p.Trp284Cys | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070826 | p.Arg312Pro | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070823 | p.Arg216Cys | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070818 | p.Tyr75Asp | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75462 | non-pleiotropic | VAR_070824 | p.Phe268Ser | Disease | - | - | Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] |
O75718 | non-pleiotropic | VAR_063599 | p.Ala13Glu | Disease | - | - | Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
O75718 | non-pleiotropic | VAR_032846 | p.Glu137Asp | Non-Disease | rs17850371 | - | - |
O75718 | non-pleiotropic | VAR_063600 | p.Lys157Glu | Disease | - | - | Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
O75718 | non-pleiotropic | VAR_054442 | p.Leu67Pro | Disease | - | - | Osteogenesis imperfecta 7 (OI7) [MIM:610682] |
O75718 | non-pleiotropic | VAR_053050 | p.Leu261Val | Non-Disease | rs1135127 | 0.2935 | - |
P02489 | non-pleiotropic | VAR_038375 | p.Arg49Cys | Disease | - | - | Cataract 9, multiple types (CTRCT9) [MIM:604219] |
P02489 | non-pleiotropic | VAR_070032 | p.Arg12Cys | Disease | - | - | Cataract 9, multiple types (CTRCT9) [MIM:604219] |
P02489 | non-pleiotropic | VAR_003819 | p.Arg116Cys | Disease | - | - | Cataract 9, multiple types (CTRCT9) [MIM:604219] |
P02489 | non-pleiotropic | VAR_046892 | p.Arg21Leu | Disease | - | - | Cataract 9, multiple types (CTRCT9) [MIM:604219] |
P02489 | non-pleiotropic | VAR_046893 | p.Arg116His | Disease | - | - | Cataract 9, multiple types (CTRCT9) [MIM:604219] |
P02511 | pleiotropic | VAR_070036 | p.Arg157His | Disease | - | - | Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] |
P02511 | pleiotropic | VAR_014607 | p.Ser41Tyr | Non-Disease | rs2234703 | - | - |
P02511 | pleiotropic | VAR_070035 | p.Gly154Ser | Disease | - | - | Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] |
P02511 | pleiotropic | VAR_069528 | p.Asp109His | Disease | - | - | Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] |
P02511 | pleiotropic | VAR_007899 | p.Arg120Gly | Disease | rs28929489 | - | Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] |
P02511 | pleiotropic | VAR_014608 | p.Pro51Leu | Non-Disease | rs2234704 | 0.0009 | - |
P53673 | non-pleiotropic | VAR_014903 | p.Thr84Met | Non-Disease | rs4277 | - | - |
P53673 | non-pleiotropic | VAR_029528 | p.Leu69Pro | Disease | - | - | Cataract 23 (CTRCT23) [MIM:610425] |
P53673 | non-pleiotropic | VAR_029529 | p.Phe94Ser | Disease | - | - | Cataract 23 (CTRCT23) [MIM:610425] |
P53673 | non-pleiotropic | VAR_033824 | p.Val36Met | Non-Disease | rs35520672 | 0.0129 | - |
P53674 | non-pleiotropic | VAR_070030 | p.Val96Phe | Disease | - | - | Cataract 17, multiple types (CTRCT17) [MIM:611544] |
P26998 | non-pleiotropic | VAR_025279 | p.Val159Ile | Non-Disease | rs4455261 | 0.0096 | - |
P26998 | non-pleiotropic | VAR_025277 | p.Arg105Gln | Non-Disease | rs17670506 | 0.0285 | - |
P26998 | non-pleiotropic | VAR_070031 | p.Val194Glu | Disease | - | - | Cataract 22 (CTRCT22) [MIM:609741] |