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 75 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q969X6 | non-pleiotropic | VAR_017445 | p.Arg565Trp | Disease | rs119465999 | 0.0018 | North American Indian childhood cirrhosis (NAIC) [MIM:604901] |
Q9UBD9 | non-pleiotropic | VAR_028354 | p.Arg197Leu | Disease | - | - | Cold-induced sweating syndrome 2 (CISS2) [MIM:610313] |
P51800 | non-pleiotropic | VAR_059209 | p.Arg534Trp | Non-Disease | rs12140223 | 0.0528 | - |
P51800 | non-pleiotropic | VAR_030784 | p.Met67Ile | Non-Disease | rs17855678 | - | - |
P51800 | non-pleiotropic | VAR_019788 | p.Tyr315Phe | Non-Disease | rs12126269 | 0.1823 | - |
P51800 | non-pleiotropic | VAR_063074 | p.Trp80Cys | Disease | - | - | Bartter syndrome 4B (BS4B) [MIM:613090] |
P51800 | non-pleiotropic | VAR_019787 | p.Arg83Gly | Non-Disease | rs10927887 | 0.3751 | - |
P51800 | non-pleiotropic | VAR_014465 | p.Ala447Thr | Non-Disease | rs1805152 | 0.3673 | - |
P51800 | non-pleiotropic | VAR_033769 | p.Ala287Val | Non-Disease | rs34188929 | - | - |
P51800 | non-pleiotropic | VAR_048695 | p.Arg8His | Non-Disease | rs9442189 | 0.0096 | - |
P51800 | non-pleiotropic | VAR_061095 | p.Pro683Leu | Non-Disease | rs12746751 | 0.0588 | - |
P51800 | non-pleiotropic | VAR_068971 | p.His357Gln | Non-Disease | rs79751787 | 0.0684 | - |
P51800 | non-pleiotropic | VAR_033768 | p.Arg45His | Non-Disease | rs35932996 | 0.0032 | - |
O95500 | non-pleiotropic | VAR_017227 | p.Thr4Met | Non-Disease | rs113831133 | 0.0326 | - |
O95500 | non-pleiotropic | VAR_069982 | p.Ala94Val | Disease | - | - | Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
O95500 | non-pleiotropic | VAR_069979 | p.Arg81His | Disease | - | - | Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
O95500 | non-pleiotropic | VAR_069980 | p.Ile86Val | Non-Disease | - | - | - |
O95500 | non-pleiotropic | VAR_069981 | p.Ser87Ile | Disease | - | - | Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
O95500 | non-pleiotropic | VAR_069983 | p.Gly232Arg | Disease | - | - | Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
O95500 | non-pleiotropic | VAR_010738 | p.Val85Asp | Disease | - | - | Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035] |
Q9Y5I7 | non-pleiotropic | VAR_017234 | p.Gly198Ala | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008172 | p.Gly239Arg | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017232 | p.Leu151Pro | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017229 | p.Leu145Pro | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008176 | p.Gly198Asp | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017231 | p.Leu151Phe | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008178 | p.Gly233Asp | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017230 | p.Arg149Leu | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008177 | p.Phe232Cys | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008175 | p.Gly191Arg | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008173 | p.Met71Arg | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008179 | p.Ser235Phe | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017237 | p.Ser235Pro | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017235 | p.Ala209Thr | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_008174 | p.Leu167Pro | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017236 | p.Arg216Thr | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017233 | p.Leu151Trp | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q9Y5I7 | non-pleiotropic | VAR_017228 | p.His141Asp | Disease | - | - | Hypomagnesemia 3 (HOMG3) [MIM:248250] |
Q8N6F1 | non-pleiotropic | VAR_031241 | p.Leu90Pro | Disease | - | - | Hypomagnesemia 5 (HOMG5) [MIM:248190] |
Q8N6F1 | non-pleiotropic | VAR_031240 | p.Gln57Glu | Disease | - | - | Hypomagnesemia 5 (HOMG5) [MIM:248190] |
Q8N6F1 | non-pleiotropic | VAR_031239 | p.Gly20Asp | Disease | - | - | Hypomagnesemia 5 (HOMG5) [MIM:248190] |
Q8N6F1 | non-pleiotropic | VAR_031238 | p.Leu13Phe | Non-Disease | rs12065961 | 0.0087 | - |
O15247 | non-pleiotropic | VAR_068898 | p.His101Gln | Disease | - | - | Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886] |
Q9H6B4 | non-pleiotropic | VAR_049824 | p.Arg69His | Non-Disease | rs2276348 | 0.0583 | - |
Q9H6B4 | non-pleiotropic | VAR_069713 | p.Val124Asp | Disease | - | - | Congenital short bowel syndrome (CSBS) [MIM:615237] |
Q13286 | non-pleiotropic | VAR_066894 | p.Gly189Arg | Disease | - | - | Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] |
Q13286 | non-pleiotropic | VAR_005134 | p.Val330Phe | Disease | - | - | Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] |
Q13286 | non-pleiotropic | VAR_066892 | p.Cys134Arg | Disease | - | - | Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] |
Q13286 | non-pleiotropic | VAR_005135 | p.Arg334Cys | Disease | - | - | Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] |
Q13286 | non-pleiotropic | VAR_005133 | p.Glu295Lys | Disease | - | - | Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200] |