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 116 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q92889 | pleiotropic | VAR_008202 | p.Arg490Gln | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_013408 | p.Glu875Gly | Non-Disease | rs1800124 | 0.0087 | - |
Q92889 | pleiotropic | VAR_070087 | p.Cys236Arg | Disease | - | - | Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760] |
Q92889 | pleiotropic | VAR_013399 | p.Ile717Thr | Non-Disease | - | - | - |
Q92889 | pleiotropic | VAR_008203 | p.Glu502Lys | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_008201 | p.Arg454Trp | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
P50548 | non-pleiotropic | VAR_070098 | p.Arg65Gln | Disease | - | - | Craniosynostosis 4 (CRS4) [MIM:600775] |
P50548 | non-pleiotropic | VAR_070099 | p.Arg86Cys | Disease | - | - | Craniosynostosis 4 (CRS4) [MIM:600775] |
P50548 | non-pleiotropic | VAR_048947 | p.Arg205His | Non-Disease | rs1053655 | - | - |
Q5T6L9 | non-pleiotropic | VAR_033300 | p.Ser540Gly | Non-Disease | rs4716346 | 0.2617 | - |
Q5T6L9 | non-pleiotropic | VAR_070433 | p.Ile377Asn | Disease | - | - | Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544] |
O95718 | non-pleiotropic | VAR_043504 | p.Leu320Pro | Disease | - | - | Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
O95718 | non-pleiotropic | VAR_043505 | p.Val342Leu | Disease | - | - | Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
O95718 | non-pleiotropic | VAR_043503 | p.Ala110Val | Disease | - | - | Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
O95718 | non-pleiotropic | VAR_043507 | p.Pro386Ser | Non-Disease | rs61742642 | 0.0707 | - |
O95718 | non-pleiotropic | VAR_043506 | p.Leu347Pro | Disease | - | - | Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] |
P13804 | non-pleiotropic | VAR_008547 | p.Thr171Ile | Non-Disease | rs1801591 | 0.05 | - |
P13804 | non-pleiotropic | VAR_002366 | p.Gly116Arg | Disease | - | - | Glutaric aciduria 2A (GA2A) [MIM:231680] |
P13804 | non-pleiotropic | VAR_002367 | p.Val157Gly | Disease | - | - | Glutaric aciduria 2A (GA2A) [MIM:231680] |
P13804 | non-pleiotropic | VAR_002368 | p.Thr266Met | Disease | - | - | Glutaric aciduria 2A (GA2A) [MIM:231680] |
P38117 | non-pleiotropic | VAR_025804 | p.Asp128Asn | Disease | - | - | Glutaric aciduria 2B (GA2B) [MIM:231680] |
P38117 | non-pleiotropic | VAR_008548 | p.Thr154Met | Non-Disease | rs1130426 | 0.4197 | - |
P38117 | non-pleiotropic | VAR_002369 | p.Arg164Gln | Disease | rs104894677 | 0.0002 | Glutaric aciduria 2B (GA2B) [MIM:231680] |
O95571 | non-pleiotropic | VAR_069507 | p.Leu55Pro | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_023397 | p.Arg163Trp | Disease | rs28940289 | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_023395 | p.Tyr38Cys | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_069511 | p.Asp196Asn | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_023396 | p.Thr136Ala | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_069508 | p.Thr152Ile | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_023398 | p.Leu185Arg | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_069509 | p.Arg163Gln | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
O95571 | non-pleiotropic | VAR_069510 | p.Thr164Lys | Disease | - | - | Ethylmalonic encephalopathy (EE) [MIM:602473] |
P57679 | pleiotropic | VAR_009945 | p.Gly403Ser | Non-Disease | rs183114391 | 0.0009 | - |
P57679 | pleiotropic | VAR_009948 | p.Arg576Gln | Non-Disease | rs1383180 | 0.3361 | - |
P57679 | pleiotropic | VAR_009949 | p.Arg760Gln | Non-Disease | rs2279252 | 0.0234 | - |
P57679 | pleiotropic | VAR_033852 | p.Ala114Val | Non-Disease | rs16837598 | 0.0523 | - |
P57679 | pleiotropic | VAR_009944 | p.Ser307Pro | Disease | - | - | Acrofacial dysostosis, Weyers type (WAD) [MIM:193530] |
P57679 | pleiotropic | VAR_009942 | p.Gln74Pro | Non-Disease | rs2291157 | 0.1152 | - |
P57679 | pleiotropic | VAR_033853 | p.Thr372Met | Non-Disease | rs28483498 | 0.0376 | - |
P57679 | pleiotropic | VAR_066448 | p.Leu623Pro | Disease | - | - | Ellis-van Creveld syndrome (EVC) [MIM:225500] |
P57679 | pleiotropic | VAR_009946 | p.Arg443Gln | Disease | rs35953626 | 0.0729 | Ellis-van Creveld syndrome (EVC) [MIM:225500] |
P57679 | pleiotropic | VAR_009943 | p.Tyr258His | Non-Disease | rs6414624 | 0.2264 | - |
P57679 | pleiotropic | VAR_066447 | p.Ser206Asn | Disease | - | - | Ellis-van Creveld syndrome (EVC) [MIM:225500] |
P57679 | pleiotropic | VAR_009947 | p.Thr449Lys | Non-Disease | rs2302075 | 0.1662 | - |
P57679 | pleiotropic | VAR_009950 | p.Asp953Gly | Non-Disease | - | - | - |
Q86UK5 | non-pleiotropic | VAR_017210 | p.Thr699Ala | Non-Disease | rs730469 | 0.4972 | - |
Q86UK5 | non-pleiotropic | VAR_051089 | p.Ser230Gly | Non-Disease | rs4689278 | 0.2374 | - |
Q86UK5 | non-pleiotropic | VAR_017209 | p.Ile283Arg | Disease | - | - | Ellis-van Creveld syndrome (EVC) [MIM:225500] |
Q86UK5 | non-pleiotropic | VAR_017211 | p.Arg950Trp | Disease | - | - | Ellis-van Creveld syndrome (EVC) [MIM:225500] |
Q9NQT5 | non-pleiotropic | VAR_068508 | p.Trp238Arg | Disease | - | - | Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] |