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 167 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P17302 | pleiotropic | VAR_038359 | p.Leu113Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
Q9Y6H8 | non-pleiotropic | VAR_066712 | p.Val28Met | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_023447 | p.Pro187Leu | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_030021 | p.Phe32Leu | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_022426 | p.Leu299Met | Non-Disease | rs968566 | 0.017 | - |
Q9Y6H8 | non-pleiotropic | VAR_066710 | p.Gly2Asp | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066711 | p.Asp3Tyr | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066714 | p.Val44Met | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066719 | p.Asn188Thr | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_009158 | p.Asn63Ser | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_030023 | p.Arg76His | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_038796 | p.Trp45Ser | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066717 | p.Thr87Met | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066718 | p.Pro187Ser | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_030022 | p.Pro59Leu | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066716 | p.Arg76Gly | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066713 | p.Arg33Leu | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
Q9Y6H8 | non-pleiotropic | VAR_066715 | p.Asp47Asn | Disease | - | - | Cataract 14, multiple types (CTRCT14) [MIM:601885] |
P36382 | pleiotropic | VAR_066251 | p.Leu229Met | Disease | - | - | Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] |
P36382 | pleiotropic | VAR_035013 | p.Pro88Ser | Disease | - | - | Atrial standstill 1 (ATRST1) [MIM:108770] |
P36382 | pleiotropic | VAR_066249 | p.Val85Ile | Disease | - | - | Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] |
P36382 | pleiotropic | VAR_066250 | p.Leu221Ile | Disease | - | - | Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] |
P36382 | pleiotropic | VAR_035014 | p.Ala96Ser | Disease | rs121434557 | 0.0002 | Atrial standstill 1 (ATRST1) [MIM:108770] |
P48165 | non-pleiotropic | VAR_038797 | p.Arg23Thr | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_038798 | p.Val44Glu | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_038801 | p.Ile247Met | Non-Disease | rs80358202 | 0.0018 | - |
P48165 | non-pleiotropic | VAR_038799 | p.Glu48Lys | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_002005 | p.Pro88Ser | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_069579 | p.Asp47Asn | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_038800 | p.Arg198Gln | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_070021 | p.Asp67Gly | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_070022 | p.Arg76Cys | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P48165 | non-pleiotropic | VAR_037642 | p.Val64Gly | Disease | - | - | Cataract 1, multiple types (CTRCT1) [MIM:116200] |
P29033 | pleiotropic | VAR_008710 | p.Asp66His | Disease | - | - | Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] Vohwinkel syndrome (VS) [MIM:124500] |
P29033 | pleiotropic | VAR_008709 | p.Trp44Cys | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_015941 | p.Asp159Val | Disease | rs28931592 | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015944 | p.Cys202Phe | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_015938 | p.Ile111Thr | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_015456 | p.Asp50Asn | Disease | rs28931594 | - | Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540] Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] |
P29033 | pleiotropic | VAR_002143 | p.Val84Leu | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015453 | p.Gly12Arg | Disease | - | - | Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] |
P29033 | pleiotropic | VAR_023605 | p.Arg32His | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_023615 | p.Ala197Ser | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_002142 | p.Phe83Leu | Non-Disease | rs111033218 | 0.0014 | - |
P29033 | pleiotropic | VAR_032750 | p.Asn54Lys | Disease | - | - | Bart-Pumphrey syndrome (BPS) [MIM:149200] |
P29033 | pleiotropic | VAR_002145 | p.Ser113Arg | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_023609 | p.Met93Ile | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_016839 | p.Arg32Leu | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_015935 | p.Asp50Tyr | Disease | - | - | Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] |
P29033 | pleiotropic | VAR_060800 | p.Val84Met | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |