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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UniProtID
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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 208 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P05783 non-pleiotropic VAR_023055 p.Ser230Thr Non-Disease rs58472472 0.0016 -
P05783 non-pleiotropic VAR_023057 p.Gly340Arg Disease - - Cirrhosis (CIRRH) [MIM:215600]
P05783 non-pleiotropic VAR_023054 p.Thr103Ala Disease rs61136606 - Cirrhosis (CIRRH) [MIM:215600]
P05783 non-pleiotropic VAR_003852 p.His128Leu Disease rs57758506 - Cirrhosis (CIRRH) [MIM:215600]
P35908 non-pleiotropic VAR_003867 p.Glu487Lys Disease rs61726449 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_009185 p.Asn186Tyr Disease rs61726454 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_009186 p.Glu476Lys Disease rs56829062 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_058293 p.Ser101Gly Non-Disease rs2634041 0.3889 -
P35908 non-pleiotropic VAR_031082 p.Glu465Asp Disease - - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_058294 p.Gly219Asp Non-Disease rs638043 0.0849 -
P35908 non-pleiotropic VAR_017829 p.Asn186Lys Disease rs61726457 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_031086 p.Glu488Lys Disease rs61726452 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_009187 p.Thr479Pro Disease rs61726453 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_010514 p.Ile182Asn Disease rs61622714 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_010515 p.Asn186Asp Disease - - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_031083 p.Glu465Lys Disease - - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_031084 p.Glu476Val Disease rs60537449 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_031085 p.Ile477Asn Disease - - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_003866 p.Glu487Asp Disease rs61726450 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_010516 p.Leu484Pro Disease rs61726451 - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P35908 non-pleiotropic VAR_003865 p.Gln181Pro Disease - - Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
P12035 non-pleiotropic VAR_031327 p.Arg503Pro Disease rs60410063 - Corneal dystrophy, Meesmann (MECD) [MIM:122100]
P12035 non-pleiotropic VAR_061297 p.Gly44Ala Non-Disease rs28721426 0.1446 -
P12035 non-pleiotropic VAR_003868 p.Glu509Lys Disease rs57872071 - Corneal dystrophy, Meesmann (MECD) [MIM:122100]
P12035 non-pleiotropic VAR_056023 p.Arg375Gly Non-Disease rs3887954 0.4353 -
P19013 non-pleiotropic VAR_016038 p.Glu449Lys Disease - - White sponge nevus 1 (WSN1) [MIM:193900]
P19013 non-pleiotropic VAR_003869 p.Ala72Val Non-Disease - 0.1896 -
P02538 non-pleiotropic VAR_017075 p.Phe174Val Disease rs28933087 - Pachyonychia congenita 1 (PC1) [MIM:167200]
P02538 non-pleiotropic VAR_017077 p.Glu472Lys Disease rs60554162 - Pachyonychia congenita 1 (PC1) [MIM:167200]
P02538 non-pleiotropic VAR_017076 p.Leu469Arg Disease rs57052654 - Pachyonychia congenita 1 (PC1) [MIM:167200]
P02538 non-pleiotropic VAR_021264 p.Asn21Ser Non-Disease rs17845411 0.292 -
P02538 non-pleiotropic VAR_035030 p.Gly111Asp Non-Disease rs681063 - -
P04259 non-pleiotropic VAR_023062 p.Glu472Lys Disease rs60627726 - Pachyonychia congenita 2 (PC2) [MIM:167210]
P04259 non-pleiotropic VAR_021265 p.Asn21Ser Non-Disease rs428894 0.3949 -
P04259 non-pleiotropic VAR_021267 p.Ile365Val Non-Disease rs437014 0.4862 -
P04259 non-pleiotropic VAR_021266 p.Asn227Ser Non-Disease rs652423 0.3526 -
Q7RTS7 pleiotropic VAR_038096 p.Asn165Lys Non-Disease rs11170177 0.1042 -
Q7RTS7 pleiotropic VAR_038097 p.Glu271Asp Non-Disease rs670741 0.2208 -
Q7RTS7 pleiotropic VAR_061300 p.Glu424Lys Non-Disease rs57711382 0.011 -
Q7RTS7 pleiotropic VAR_049806 p.Leu178Gln Non-Disease rs11170176 0.2089 -
Q7RTS7 pleiotropic VAR_065951 p.Asp482Asn Disease - - Hypotrichosis 3 (HYPT3) [MIM:613981]
Q7RTS7 pleiotropic VAR_063587 p.Asn148Lys Disease - - Woolly hair autosomal dominant (ADWH) [MIM:194300]
Q7RTS7 pleiotropic VAR_061299 p.Arg392Gln Non-Disease rs57387512 0.0069 -
O95678 non-pleiotropic VAR_038102 p.Arg209Gln Non-Disease rs2232390 0.0018 -
O95678 non-pleiotropic VAR_038103 p.Glu242Gly Non-Disease rs2232393 0.0083 -
O95678 non-pleiotropic VAR_038107 p.Arg432Cys Non-Disease rs2232406 0.0101 -
O95678 non-pleiotropic VAR_038108 p.Ser485Arg Non-Disease rs298104 0.303 -
O95678 non-pleiotropic VAR_038098 p.Arg39Cys Non-Disease rs2232384 - -
O95678 non-pleiotropic VAR_038104 p.Glu337Lys Disease rs2232398 0.0038 Loose anagen hair syndrome (LAHS) [MIM:600628]
O95678 non-pleiotropic VAR_038101 p.Ala161Thr Non-Disease rs2232387 0.1345 -