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 111 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9P2K8 | non-pleiotropic | VAR_040486 | p.Lys1336Arg | Non-Disease | rs35480871 | 0.0055 | - |
Q9P2K8 | non-pleiotropic | VAR_040482 | p.Asp872Val | Non-Disease | - | - | - |
Q9P2K8 | non-pleiotropic | VAR_040484 | p.Thr1060Arg | Non-Disease | - | - | - |
Q9P2K8 | non-pleiotropic | VAR_070991 | p.Leu643Arg | Disease | - | - | Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810] |
Q9P2K8 | non-pleiotropic | VAR_070990 | p.Arg585Gln | Disease | - | - | Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810] |
Q9P2K8 | non-pleiotropic | VAR_040479 | p.His137Arg | Non-Disease | - | - | - |
Q9P2K8 | non-pleiotropic | VAR_040481 | p.Ile441Leu | Non-Disease | rs2291627 | 0.2438 | - |
Q9P2K8 | non-pleiotropic | VAR_040480 | p.Arg166Trp | Non-Disease | rs34439704 | 0.0005 | - |
Q9P2K8 | non-pleiotropic | VAR_040485 | p.Gly1306Cys | Non-Disease | rs35602605 | 0.0895 | - |
Q9P2K8 | non-pleiotropic | VAR_040487 | p.Gln1406His | Non-Disease | rs55721315 | 0.0009 | - |
Q14232 | non-pleiotropic | VAR_068450 | p.Val183Phe | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
Q14232 | non-pleiotropic | VAR_015404 | p.Asn208Tyr | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
Q9NR50 | non-pleiotropic | VAR_015410 | p.Arg225Gln | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
Q9NR50 | non-pleiotropic | VAR_048920 | p.Asp288Glu | Non-Disease | rs3738247 | 0.0005 | - |
Q9NR50 | non-pleiotropic | VAR_068470 | p.Leu27Gln | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
Q9NR50 | non-pleiotropic | VAR_068472 | p.Ile346Thr | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
Q9NR50 | non-pleiotropic | VAR_015409 | p.Ala87Val | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
Q9NR50 | non-pleiotropic | VAR_068471 | p.Gly47Glu | Disease | - | - | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] |
P38919 | non-pleiotropic | VAR_071090 | p.Asp270Gly | Disease | - | - | Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] |
Q04637 | non-pleiotropic | VAR_066575 | p.Ile806Val | Non-Disease | rs62287499 | 0.0005 | - |
Q04637 | non-pleiotropic | VAR_066576 | p.Thr829Ser | Non-Disease | rs111500185 | - | - |
Q04637 | non-pleiotropic | VAR_066579 | p.Arg1205His | Disease | rs112176450 | - | Parkinson disease 18 (PARK18) [MIM:614251] |
Q04637 | non-pleiotropic | VAR_061148 | p.Pro1229Ala | Non-Disease | rs35629949 | 0.0014 | - |
Q04637 | non-pleiotropic | VAR_063040 | p.Met432Val | Non-Disease | rs2178403 | 0.2195 | - |
Q04637 | non-pleiotropic | VAR_066573 | p.Ala502Val | Disease | rs111290936 | - | Parkinson disease 18 (PARK18) [MIM:614251] |
Q04637 | non-pleiotropic | VAR_061147 | p.Thr161Ala | Non-Disease | rs13319149 | 0.0018 | - |
Q04637 | non-pleiotropic | VAR_066571 | p.Pro71Ser | Non-Disease | rs113810947 | - | - |
Q04637 | non-pleiotropic | VAR_055705 | p.Leu1233Pro | Non-Disease | rs2230570 | 0.034 | - |
Q04637 | non-pleiotropic | VAR_066580 | p.Asn1257Ser | Non-Disease | rs73053766 | 0.0 | - |
Q04637 | non-pleiotropic | VAR_055704 | p.Tyr311Cys | Non-Disease | rs16858632 | 0.0165 | - |
Q96FG2 | non-pleiotropic | VAR_030362 | p.Arg66Cys | Non-Disease | rs7564372 | 0.0574 | - |
Q96FG2 | non-pleiotropic | VAR_070125 | p.Leu265Ser | Disease | - | - | Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429] |
Q96FG2 | non-pleiotropic | VAR_030363 | p.Thr70Ile | Non-Disease | rs955592 | 0.034 | - |
P50402 | non-pleiotropic | VAR_038433 | p.Asp149His | Non-Disease | rs2070818 | 0.0018 | - |
P50402 | non-pleiotropic | VAR_005199 | p.Pro183His | Disease | - | - | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] |
P50402 | non-pleiotropic | VAR_016016 | p.Gln133His | Disease | - | - | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] |
P50402 | non-pleiotropic | VAR_005198 | p.Ser54Phe | Disease | - | - | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] |
P50402 | non-pleiotropic | VAR_005200 | p.Pro183Thr | Disease | - | - | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] |
Q92979 | non-pleiotropic | VAR_062480 | p.Asp86Gly | Disease | - | - | Bowen-Conradi syndrome (BWCNS) [MIM:211180] |
Q92979 | non-pleiotropic | VAR_050237 | p.Ala34Gly | Non-Disease | rs11064480 | - | - |
P17813 | non-pleiotropic | VAR_070285 | p.Ile220Thr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070298 | p.Leu490Ser | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_005192 | p.Thr5Met | Non-Disease | rs35400405 | 0.0418 | - |
P17813 | non-pleiotropic | VAR_026781 | p.Cys412Ser | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_005195 | p.Trp149Cys | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_005194 | p.Cys53Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_009121 | p.Leu221Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_026775 | p.Val49Phe | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070280 | p.Val105Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_005197 | p.Leu306Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |