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.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

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 190 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O95163 non-pleiotropic VAR_047476 p.Arg70Cys Non-Disease rs3737311 0.0014 -
O95163 non-pleiotropic VAR_047477 p.Met182Lys Non-Disease rs10521092 0.0565 -
O95163 non-pleiotropic VAR_047478 p.Glu312Lys Non-Disease rs1140064 0.0179 -
O95163 non-pleiotropic VAR_047481 p.Ile816Leu Non-Disease rs2230793 0.286 -
O95163 non-pleiotropic VAR_047485 p.Gly1013Ser Non-Disease rs2230795 0.0248 -
O95163 non-pleiotropic VAR_047486 p.Cys1072Ser Non-Disease rs3204145 0.2236 -
O95163 non-pleiotropic VAR_047479 p.Arg525Gln Non-Disease rs838827 0.0574 -
O95163 non-pleiotropic VAR_047487 p.Pro1158Leu Non-Disease rs1538660 0.2231 -
Q9Y6K9 pleiotropic VAR_031958 p.Arg173Gly Disease rs179363866 - Recurrent isolated invasive pneumococcal disease 2 (IPD2) [MIM:300640]
Q9Y6K9 pleiotropic VAR_011323 p.Asp311Asn Disease rs179363867 - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_031959 p.Glu315Ala Disease - - X-linked familial atypical micobacteriosis 1 (AMCBX1) [MIM:300636]
Q9Y6K9 pleiotropic VAR_011325 p.Cys417Phe Disease rs137853326 - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_031960 p.Arg319Gln Disease - - X-linked familial atypical micobacteriosis 1 (AMCBX1) [MIM:300636]
Q9Y6K9 pleiotropic VAR_011326 p.Cys417Arg Disease - - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_011321 p.Leu227Pro Disease rs179363869 - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_026491 p.Glu57Lys Disease rs148695964 - Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9 pleiotropic VAR_026495 p.Leu153Arg Disease - - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_042666 p.Ala323Pro Disease rs179363865 - Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9 pleiotropic VAR_009182 p.Met407Val Disease - - Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9 pleiotropic VAR_011322 p.Ala288Gly Disease - - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_026493 p.Asp113Asn Non-Disease rs179363896 - -
Q9Y6K9 pleiotropic VAR_026494 p.Arg123Trp Disease rs179363895 - Incontinentia pigmenti (IP) [MIM:308300]
Q9Y6K9 pleiotropic VAR_011320 p.Arg175Pro Disease rs179363868 - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_011324 p.Asp406Val Disease - - Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]
Q9Y6K9 pleiotropic VAR_026496 p.Cys417Tyr Disease rs137853326 - Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584]
Q13651 non-pleiotropic VAR_016294 p.Leu61Val Non-Disease rs4252250 0.0087 -
Q13651 non-pleiotropic VAR_016297 p.Arg212Gln Non-Disease rs4252273 - -
Q13651 non-pleiotropic VAR_049175 p.Pro353Ser Non-Disease rs35235073 - -
Q13651 non-pleiotropic VAR_016296 p.Ser159Gly Non-Disease rs3135932 0.0826 -
Q13651 non-pleiotropic VAR_016299 p.Ser420Leu Non-Disease rs2229114 0.028 -
Q13651 non-pleiotropic VAR_063543 p.Gly141Arg Disease - - Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651 non-pleiotropic VAR_063542 p.Thr84Ile Disease - - Inflammatory bowel disease 28 (IBD28) [MIM:613148]
Q13651 non-pleiotropic VAR_016295 p.Val113Ile Non-Disease rs4252303 0.0037 -
Q13651 non-pleiotropic VAR_016298 p.Arg351Gly Non-Disease rs2229113 0.1901 -
Q13651 non-pleiotropic VAR_020004 p.Ile224Val Non-Disease rs2228055 0.1217 -
Q14626 non-pleiotropic VAR_019822 p.Arg395Trp Non-Disease rs11575580 0.0152 -
Q14626 non-pleiotropic VAR_066666 p.Pro221Arg Disease - - Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
Q14626 non-pleiotropic VAR_066667 p.Ser245Cys Disease - - Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
Q14626 non-pleiotropic VAR_066668 p.Arg296Trp Disease - - Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]
Q14626 non-pleiotropic VAR_019821 p.Pro65Thr Non-Disease rs11575589 0.0037 -
P42701 non-pleiotropic VAR_021282 p.Pro47Ser Non-Disease rs17887176 0.0124 -
P42701 non-pleiotropic VAR_021281 p.Pro3Gln Non-Disease rs17884651 0.0002 -
P42701 non-pleiotropic VAR_011986 p.Met365Thr Non-Disease rs375947 0.2893 -
P42701 non-pleiotropic VAR_021285 p.His339Gln Non-Disease rs17884957 0.0028 -
P42701 non-pleiotropic VAR_021283 p.Arg156His Non-Disease rs11575926 0.067 -
P42701 non-pleiotropic VAR_011987 p.Gly378Arg Non-Disease rs401502 0.2746 -
P42701 non-pleiotropic VAR_021284 p.Gln214Arg Non-Disease rs11575934 0.2294 -
P42701 non-pleiotropic VAR_015577 p.Arg213Trp Disease - - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
Q96PD4 non-pleiotropic VAR_058287 p.Glu126Gly Non-Disease rs2397084 0.0404 -
Q96PD4 non-pleiotropic VAR_058288 p.Val155Ile Non-Disease rs11465553 0.0262 -