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 67 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P13569 | pleiotropic | VAR_009901 | p.Ile506Met | Non-Disease | rs1800092 | 0.0002 | - |
P13569 | pleiotropic | VAR_000224 | p.Tyr917Cys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000202 | p.Ile618Thr | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000112 | p.Gly85Glu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000127 | p.Ala141Asp | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000254 | p.Ile1234Val | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000243 | p.Gln1071Pro | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000249 | p.Met1137Val | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000237 | p.Arg1066His | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000196 | p.Gly576Ala | Non-Disease | rs1800098 | 0.0037 | - |
P13569 | pleiotropic | VAR_000161 | p.Val456Phe | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000128 | p.Ile148Thr | Disease | rs35516286 | 0.0014 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000152 | p.Leu346Pro | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000195 | p.Pro574His | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000244 | p.Pro1072Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000232 | p.Phe1052Val | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000173 | p.Asp513Gly | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_000108 | p.Trp57Gly | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000146 | p.Gly314Glu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000136 | p.Leu206Trp | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000255 | p.Ser1235Arg | Disease | rs34911792 | 0.0018 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000140 | p.Asn287Tyr | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000153 | p.Arg347His | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000203 | p.Leu619Ser | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000133 | p.His199Gln | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000113 | p.Phe87Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000116 | p.Gln98Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000137 | p.Cys225Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000160 | p.Ala455Glu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000125 | p.Ala120Thr | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000102 | p.Arg31Cys | Non-Disease | rs1800073 | 0.0018 | - |
P13569 | pleiotropic | VAR_000130 | p.Gly178Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000120 | p.Pro111Leu | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_009904 | p.Ser909Ile | Non-Disease | rs1800107 | - | - |
P13569 | pleiotropic | VAR_000233 | p.Gly1061Arg | Disease | rs142394380 | 0.0002 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000201 | p.Asp614Gly | Disease | rs201124247 | 0.0004 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000150 | p.Ile336Lys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000107 | p.Ser50Tyr | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_000264 | p.Gln1291His | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000139 | p.Arg258Gly | Disease | rs191456345 | 0.0002 | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_000175 | p.Gly544Val | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_000194 | p.Asp572Asn | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000169 | p.Ile507Val | Non-Disease | rs1800091 | - | - |
P13569 | pleiotropic | VAR_000181 | p.Arg553Gln | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000226 | p.Met952Ile | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000132 | p.Glu193Lys | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000252 | p.Arg1162Leu | Non-Disease | rs1800120 | 0.0009 | - |
P13569 | pleiotropic | VAR_009902 | p.Ser654Gly | Non-Disease | rs1800099 | - | - |
P13569 | pleiotropic | VAR_000228 | p.Ile1005Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000221 | p.Cys866Tyr | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |