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
Disease name
Protein type
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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 283 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P08F94 non-pleiotropic VAR_018522 p.Gly223Ser Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018570 p.Tyr2863Cys Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018541 p.Ala1030Glu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018588 p.Val3440Asp Non-Disease - - -
P08F94 non-pleiotropic VAR_018524 p.Gly326Val Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_027442 p.Ile3905Asn Non-Disease rs2661488 0.0294 -
P08F94 non-pleiotropic VAR_018543 p.Tyr1136Cys Non-Disease rs41273726 0.0051 -
P08F94 non-pleiotropic VAR_018564 p.Ala2615Gly Non-Disease - - -
P08F94 non-pleiotropic VAR_018590 p.Val3471Gly Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_014052 p.Ser1664Phe Disease rs28937907 - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018552 p.Val1789Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_014055 p.Glu1995Gly Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_014061 p.Ile3553Thr Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018592 p.Glu3502Val Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018597 p.Pro3783Ser Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066435 p.Gly2224Arg Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018581 p.Ile3167Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018573 p.Ser2983Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018594 p.Glu3529Gln Disease rs145184792 0.0122 Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018548 p.Pro1486Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066420 p.Ala293Val Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018553 p.Ser1833Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066417 p.Ile246Thr Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018560 p.Val2032Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_014054 p.Gln1917Arg Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066430 p.Trp1928Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018529 p.Arg488Pro Non-Disease - - -
P08F94 non-pleiotropic VAR_018569 p.Ser2861Gly Disease rs150925674 0.0012 Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018585 p.Ser3289Ile Non-Disease rs148932323 0.0046 -
P08F94 non-pleiotropic VAR_018530 p.Arg496Pro Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018536 p.Ile757Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066422 p.Gly470Val Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066432 p.Leu2106Arg Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018591 p.Arg3482Cys Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_014062 p.Val3960Ile Non-Disease rs34548196 0.0092 -
P08F94 non-pleiotropic VAR_018589 p.Ile3468Val Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018568 p.Leu2772Pro Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018538 p.Asn830Ser Non-Disease - 0.0579 -
P08F94 non-pleiotropic VAR_018561 p.Leu2134Pro Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018563 p.Cys2422Gly Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018520 p.Ala17Val Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018567 p.Asp2761Tyr Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066434 p.Ser2219Leu Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066438 p.Arg2573Cys Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018558 p.Gly1971Asp Disease rs180675584 0.0002 Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018577 p.Asp3088Asn Non-Disease - - -
P08F94 non-pleiotropic VAR_018562 p.Ile2303Phe Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066440 p.Val2798Gly Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_066428 p.Val1817Gly Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
P08F94 non-pleiotropic VAR_018587 p.Cys3346Arg Disease - - Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]