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 89 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P29400 | non-pleiotropic | VAR_001923 | p.Gly325Glu | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001962 | p.Gly1379Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_007996 | p.Gly561Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_007991 | p.Gly114Ser | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011288 | p.Arg1511His | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001957 | p.Gly1143Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_008015 | p.Gly1486Ala | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001924 | p.Gly325Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001948 | p.Gly740Glu | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001947 | p.Gly684Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011246 | p.Gly629Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001942 | p.Gly609Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
Q14031 | non-pleiotropic | VAR_059242 | p.Ser455Pro | Non-Disease | rs1042065 | 0.4111 | - |
Q14031 | non-pleiotropic | VAR_015217 | p.Asn1110Lys | Non-Disease | rs1042067 | - | - |
Q14031 | non-pleiotropic | VAR_032972 | p.Pro1126Ser | Non-Disease | rs35179844 | 0.029 | - |
Q14031 | non-pleiotropic | VAR_032974 | p.Leu1362Pro | Non-Disease | rs35363062 | 0.026 | - |
Q14031 | non-pleiotropic | VAR_015216 | p.Ser455Ala | Non-Disease | rs1042065 | 0.4268 | - |
Q14031 | non-pleiotropic | VAR_032973 | p.Ile1162Val | Non-Disease | rs34466065 | 0.0302 | - |
Q14031 | non-pleiotropic | VAR_070936 | p.Gly591Ser | Disease | - | - | Deafness, X-linked, 6 (DFNX6) [MIM:300914] |
P05997 | non-pleiotropic | VAR_013588 | p.Gly963Arg | Disease | - | - | Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010] |
P05997 | non-pleiotropic | VAR_057913 | p.Asp1432Val | Non-Disease | - | - | - |
P05997 | non-pleiotropic | VAR_057911 | p.Pro833Leu | Non-Disease | rs116298748 | 0.0092 | - |
P05997 | non-pleiotropic | VAR_048800 | p.Arg956Pro | Non-Disease | rs6434313 | 0.0018 | - |
P05997 | non-pleiotropic | VAR_057910 | p.Val512Ala | Non-Disease | rs35852101 | 0.0147 | - |
P05997 | non-pleiotropic | VAR_048799 | p.Pro460Ser | Non-Disease | rs35830636 | 0.0156 | - |
P05997 | non-pleiotropic | VAR_057912 | p.Thr1230Ser | Non-Disease | - | - | - |
Q9BWP8 | non-pleiotropic | VAR_065902 | p.Gly204Ser | Disease | - | - | 3MC syndrome 2 (3MC2) [MIM:265050] |
Q9BWP8 | non-pleiotropic | VAR_065901 | p.Ser169Pro | Disease | - | - | 3MC syndrome 2 (3MC2) [MIM:265050] |
Q9BWP8 | non-pleiotropic | VAR_038143 | p.His219Arg | Non-Disease | rs7567833 | 0.1915 | - |
Q9Y215 | non-pleiotropic | VAR_010136 | p.Tyr430Ser | Disease | - | - | Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034] |
Q9Y215 | non-pleiotropic | VAR_010137 | p.Cys444Tyr | Disease | - | - | Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034] |
Q9Y215 | non-pleiotropic | VAR_010135 | p.Arg410Gln | Disease | - | - | Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034] |
Q9Y215 | non-pleiotropic | VAR_010133 | p.Pro59Gln | Disease | - | - | Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034] |
Q9Y215 | non-pleiotropic | VAR_048809 | p.Ser312Gly | Non-Disease | rs6782980 | 0.0386 | - |
Q9Y215 | non-pleiotropic | VAR_010134 | p.Asp342Glu | Disease | - | - | Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034] |
Q96H96 | pleiotropic | VAR_070248 | p.Ser297Cys | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_068163 | p.Asn178Ser | Disease | - | - | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] |
Q96H96 | pleiotropic | VAR_068161 | p.Ser96Asn | Disease | - | - | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] |
Q96H96 | pleiotropic | VAR_070240 | p.Pro49His | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070243 | p.Met78Val | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070239 | p.Phe29Leu | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070250 | p.Arg337Gln | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070245 | p.Pro107Ser | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070249 | p.Asn336His | Non-Disease | - | - | - |
Q96H96 | pleiotropic | VAR_070247 | p.Thr267Ala | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070251 | p.Val343Ala | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070242 | p.Arg69His | Non-Disease | - | - | - |
Q96H96 | pleiotropic | VAR_070244 | p.Ile97Thr | Disease | - | - | Multiple system atrophy 1 (MSA1) [MIM:146500] |
Q96H96 | pleiotropic | VAR_070237 | p.Leu16Val | Non-Disease | rs6818847 | 0.3502 | - |
Q96H96 | pleiotropic | VAR_068162 | p.Arg147His | Disease | - | - | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426] |