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 61 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9H251 | pleiotropic | VAR_046435 | p.Phe2801Val | Non-Disease | rs3802707 | 0.001 | - |
Q9H251 | pleiotropic | VAR_027323 | p.Arg1060Trp | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027318 | p.Glu247Lys | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046408 | p.Ser944Gly | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046404 | p.Pro240Leu | Disease | rs121908354 | 0.0002 | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_012180 | p.Thr1999Ser | Non-Disease | rs11592462 | 0.3452 | - |
Q9H251 | pleiotropic | VAR_046425 | p.Arg2029Trp | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027344 | p.Val2933Glu | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027345 | p.Asp2954Asn | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046417 | p.Val1711Ile | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046423 | p.Arg1912Trp | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027327 | p.Arg1437Gln | Non-Disease | rs56181447 | 0.0521 | - |
Q9H251 | pleiotropic | VAR_027322 | p.Arg582Gln | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_012181 | p.Glu2044Lys | Non-Disease | rs10466026 | 0.3327 | - |
Q9H251 | pleiotropic | VAR_027338 | p.Asp2376Asn | Non-Disease | rs9663920 | - | - |
Q9H251 | pleiotropic | VAR_027347 | p.Arg3175His | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046411 | p.Asn1098Ser | Disease | rs41281310 | 0.001 | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027321 | p.Ala484Pro | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_012186 | p.Glu2588Gln | Non-Disease | rs41281338 | 0.0066 | - |
Q9H251 | pleiotropic | VAR_046420 | p.Val1807Met | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012179 | p.Arg1804Gln | Non-Disease | rs3802711 | 0.139 | - |
Q9H251 | pleiotropic | VAR_046414 | p.Arg1417Trp | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012188 | p.Arg2956Cys | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046409 | p.Glu960Lys | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012184 | p.Arg2358Gln | Non-Disease | rs4747194 | 0.3413 | - |
Q9H251 | pleiotropic | VAR_046415 | p.Ile1520Met | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012173 | p.Asn1351Asp | Non-Disease | rs1227065 | 0.2179 | - |
Q9H251 | pleiotropic | VAR_012175 | p.Ala1575Thr | Non-Disease | rs1227051 | 0.2712 | - |
Q9H251 | pleiotropic | VAR_046427 | p.Arg2171Cys | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_024030 | p.Ala366Thr | Disease | rs143282422 | 0.002 | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_012176 | p.Thr1671Ser | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046416 | p.Met1574Thr | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012189 | p.Pro3059Thr | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046419 | p.Pro1788Leu | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046405 | p.Arg301Gln | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_012190 | p.Phe3125Leu | Non-Disease | rs45583140 | 0.0954 | - |
Q9H251 | pleiotropic | VAR_012174 | p.Gln1496His | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046426 | p.Ile2125Met | Non-Disease | rs16929354 | - | - |
Q9H251 | pleiotropic | VAR_027334 | p.Gly2017Ser | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_024031 | p.Thr1209Ala | Disease | rs41281314 | 0.0493 | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027346 | p.Asn2962Ser | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046429 | p.Asp2376Val | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027337 | p.Val2283Ile | Non-Disease | rs41281334 | 0.0367 | - |
Q9H251 | pleiotropic | VAR_046438 | p.Arg3175Cys | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027320 | p.Leu480Gln | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027319 | p.Asn452Ser | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046431 | p.Arg2489His | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046430 | p.Leu2473Pro | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046432 | p.Thr2530Ile | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027342 | p.Gly2744Ser | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |