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 55 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P20807 non-pleiotropic VAR_009554 p.Arg118Gly Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009590 p.Arg572Trp Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009561 p.Ser215Pro Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009585 p.Arg493Trp Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009569 p.Pro319Leu Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_001369 p.Ser744Gly Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009594 p.Ala702Val Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009558 p.Thr184Met Disease rs35889956 0.0092 Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009583 p.Arg489Trp Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009595 p.Asp705Gly Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009571 p.Tyr336Asn Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009559 p.Leu189Pro Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009598 p.Arg748Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009573 p.Arg437Cys Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009570 p.His334Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009575 p.Gly441Asp Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009560 p.Gly214Ser Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009580 p.Ser479Gly Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009586 p.Gly496Arg Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009588 p.Arg541Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_001370 p.Arg769Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009549 p.Pro26Leu Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009555 p.Cys137Arg Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009597 p.Phe731Ser Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009572 p.Trp360Cys Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009548 p.Val4Ile Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009557 p.Pro183Leu Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009564 p.Gly222Arg Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009553 p.Glu107Lys Non-Disease rs1801505 0.0041 -
P20807 non-pleiotropic VAR_009587 p.Ile502Thr Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009567 p.Ala236Thr Non-Disease rs1801449 0.2213 -
P20807 non-pleiotropic VAR_001368 p.Arg572Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_022272 p.Gly21Glu Non-Disease rs28364364 0.0069 -
P20807 non-pleiotropic VAR_015389 p.Ala160Gly Non-Disease rs17592 0.0152 -
P20807 non-pleiotropic VAR_009578 p.Arg448Gly Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009563 p.Glu217Lys Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
O15484 non-pleiotropic VAR_069278 p.Leu244Pro Disease - - Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]
O15484 non-pleiotropic VAR_069277 p.Arg243Leu Disease - - Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235]
Q9BXL7 non-pleiotropic VAR_069710 p.Gly123Ser Disease - - Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445]
Q9BXL7 non-pleiotropic VAR_028118 p.Ser694Leu Non-Disease rs3735133 0.0002 -
Q9BXL7 non-pleiotropic VAR_028117 p.Thr670Met Non-Disease rs3735134 - -
Q9BXL7 non-pleiotropic VAR_069711 p.Glu134Gly Disease - - Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445]
Q9H257 non-pleiotropic VAR_070828 p.Gly72Ser Disease - - Candidiasis, familial, 2 (CANDF2) [MIM:212050]
Q9H257 non-pleiotropic VAR_070830 p.Arg373Pro Disease - - Candidiasis, familial, 2 (CANDF2) [MIM:212050]
Q9H257 non-pleiotropic VAR_048607 p.Ser12Asn Non-Disease rs4077515 0.3669 -
Q9H257 non-pleiotropic VAR_070829 p.Arg101Cys Disease - - Candidiasis, familial, 2 (CANDF2) [MIM:212050]
Q8NG31 non-pleiotropic VAR_026430 p.Thr113Ala Non-Disease rs12911738 0.2994 -
Q8NG31 non-pleiotropic VAR_061569 p.Leu1190Val Non-Disease rs58614880 0.0028 -
Q8NG31 non-pleiotropic VAR_026432 p.Arg936Gly Non-Disease rs8040502 0.2994 -
Q8NG31 non-pleiotropic VAR_026433 p.Lys1285Glu Non-Disease rs17747633 0.2273 -