Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]