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 207 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P01116 | pleiotropic | VAR_016029 | p.Gly13Asp | Disease | - | - | Gastric cancer (GASC) [MIM:613659] |
P01116 | pleiotropic | VAR_006840 | p.Gly12Val | Disease | - | - | Gastric cancer (GASC) [MIM:613659] |
P01116 | pleiotropic | VAR_026112 | p.Gly60Arg | Disease | - | - | Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] |
P01116 | pleiotropic | VAR_064853 | p.Pro34Gln | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
P01116 | pleiotropic | VAR_026110 | p.Pro34Arg | Disease | - | - | Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] |
P01116 | pleiotropic | VAR_064849 | p.Lys5Asn | Disease | - | - | Gastric cancer (GASC) [MIM:613659] |
P01116 | pleiotropic | VAR_064850 | p.Gln22Glu | Disease | - | - | Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] |
P01116 | pleiotropic | VAR_065146 | p.Gly60Ser | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
P01116 | pleiotropic | VAR_069785 | p.Lys147Glu | Disease | - | - | Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] |
P01116 | pleiotropic | VAR_064851 | p.Gln22Arg | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
P01116 | pleiotropic | VAR_064854 | p.Ile36Met | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
O00522 | non-pleiotropic | VAR_023574 | p.Lys569Glu | Disease | - | - | Cerebral cavernous malformations 1 (CCM1) [MIM:116860] |
O00522 | non-pleiotropic | VAR_023573 | p.Phe97Ser | Disease | - | - | Cerebral cavernous malformations 1 (CCM1) [MIM:116860] |
Q99456 | non-pleiotropic | VAR_009547 | p.Arg20Trp | Non-Disease | rs17566772 | 0.0638 | - |
Q99456 | non-pleiotropic | VAR_013126 | p.Met129Thr | Disease | rs28936695 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_049783 | p.Pro15Ser | Non-Disease | rs11650915 | 0.3388 | - |
Q99456 | non-pleiotropic | VAR_008528 | p.Tyr429Asp | Disease | rs58162394 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_031397 | p.Ile426Ser | Disease | rs59350319 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_008527 | p.Leu140Arg | Disease | rs58918655 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_031398 | p.Tyr429Cys | Disease | rs59202432 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_031394 | p.Arg135Ser | Disease | rs61282718 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_013127 | p.Gln130Pro | Disease | rs58864803 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_031395 | p.Ala137Pro | Disease | rs58038639 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_008526 | p.Arg135Gly | Disease | rs58410481 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_003834 | p.Arg135Thr | Disease | rs57218384 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_003835 | p.Val143Leu | Disease | rs58343600 | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
Q99456 | non-pleiotropic | VAR_008525 | p.Arg135Ile | Disease | - | - | Corneal dystrophy, Meesmann (MECD) [MIM:122100] |
P13646 | non-pleiotropic | VAR_059376 | p.Phe81Tyr | Non-Disease | rs12150581 | - | - |
P13646 | non-pleiotropic | VAR_003836 | p.Leu119Pro | Disease | - | - | White sponge nevus 2 (WSN2) [MIM:615785] |
P13646 | non-pleiotropic | VAR_024488 | p.Ala146Gly | Non-Disease | rs760134 | 0.0721 | - |
P13646 | non-pleiotropic | VAR_016037 | p.Leu115Pro | Disease | - | - | White sponge nevus 2 (WSN2) [MIM:615785] |
P13646 | non-pleiotropic | VAR_060724 | p.Ala187Val | Non-Disease | rs9891361 | 0.2732 | - |
P13646 | non-pleiotropic | VAR_016036 | p.Asn112Ser | Disease | - | - | White sponge nevus 2 (WSN2) [MIM:615785] |
P13646 | non-pleiotropic | VAR_059377 | p.Thr298Ala | Non-Disease | rs4796697 | 0.0845 | - |
P13646 | non-pleiotropic | VAR_023924 | p.Leu111Pro | Disease | - | - | White sponge nevus 2 (WSN2) [MIM:615785] |
P13646 | non-pleiotropic | VAR_016035 | p.Met108Thr | Disease | - | - | White sponge nevus 2 (WSN2) [MIM:615785] |
Q04695 | pleiotropic | VAR_003851 | p.Tyr98Asp | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_003848 | p.Asn92His | Disease | - | - | Steatocystoma multiplex (SM) [MIM:184500] |
Q04695 | pleiotropic | VAR_003849 | p.Asn92Ser | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_017071 | p.Leu95Pro | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_017070 | p.Leu95Gln | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_017068 | p.Arg94Pro | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_017073 | p.Leu99Pro | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_010513 | p.Arg94Cys | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] Steatocystoma multiplex (SM) [MIM:184500] |
Q04695 | pleiotropic | VAR_003850 | p.Arg94His | Disease | - | - | Steatocystoma multiplex (SM) [MIM:184500] |
Q04695 | pleiotropic | VAR_017074 | p.Val102Met | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_037083 | p.Asn109Asp | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_003847 | p.Asn92Asp | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] |
Q04695 | pleiotropic | VAR_010512 | p.Met88Thr | Disease | - | - | Pachyonychia congenita 2 (PC2) [MIM:167210] Steatocystoma multiplex (SM) [MIM:184500] |
P05783 | non-pleiotropic | VAR_023056 | p.Arg261Gln | Disease | - | - | Cirrhosis (CIRRH) [MIM:215600] |