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 210 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9H9P8 non-pleiotropic VAR_025684 p.Lys81Glu Disease - - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8 non-pleiotropic VAR_025683 p.Gly57Arg Disease - - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8 non-pleiotropic VAR_025681 p.Leu18Arg Non-Disease rs2275591 0.433 -
Q9H9P8 non-pleiotropic VAR_025687 p.Glu176Asp Disease - - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8 non-pleiotropic VAR_025685 p.His98Arg Disease - - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q9H9P8 non-pleiotropic VAR_025689 p.Pro302Leu Disease - - L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
Q16363 non-pleiotropic VAR_056140 p.Gly94Ser Non-Disease rs35349917 0.0262 -
Q16363 non-pleiotropic VAR_056143 p.Asn1549Ser Non-Disease rs12110554 0.0165 -
Q16363 non-pleiotropic VAR_056144 p.Val1815Ile Non-Disease rs3734292 0.0202 -
Q16363 non-pleiotropic VAR_069708 p.Pro950Leu Disease - - Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235]
Q16363 non-pleiotropic VAR_056142 p.Leu492His Non-Disease rs3752579 0.0046 -
Q16363 non-pleiotropic VAR_025552 p.Pro1119Arg Non-Disease rs1050349 0.2328 -
Q16363 non-pleiotropic VAR_025551 p.Gly1117Ser Non-Disease rs2032567 0.2043 -
Q16363 non-pleiotropic VAR_061348 p.Ala283Glu Non-Disease rs9400522 0.1758 -
Q16363 non-pleiotropic VAR_025550 p.Tyr498His Non-Disease rs1050348 0.2741 -
Q16363 non-pleiotropic VAR_056141 p.Arg154Trp Non-Disease rs11757455 0.0289 -
Q9Y6N6 non-pleiotropic VAR_056145 p.Pro522Ser Non-Disease rs869457 0.2502 -
Q9Y6N6 non-pleiotropic VAR_056149 p.Arg1264Trp Non-Disease rs11244275 0.0289 -
Q9Y6N6 non-pleiotropic VAR_056147 p.Arg770Gly Non-Disease rs3739510 0.2332 -
Q9Y6N6 non-pleiotropic VAR_056146 p.Glu544Gly Non-Disease rs10901333 0.4712 -
Q9Y6N6 non-pleiotropic VAR_066404 p.Gly350Arg Disease - - Cortical malformations occipital (OCCM) [MIM:614115]
Q9Y6N6 non-pleiotropic VAR_056148 p.Ser1082Gly Non-Disease rs2275140 0.2957 -
P13473 non-pleiotropic VAR_011992 p.Pro256His Non-Disease rs1043878 - -
P13473 non-pleiotropic VAR_026230 p.Trp321Arg Disease - - Danon disease (DAND) [MIM:300257]
Q9P2J5 non-pleiotropic VAR_070437 p.Lys82Arg Non-Disease rs112954500 0.0023 -
Q9P2J5 non-pleiotropic VAR_052637 p.Arg1088Lys Non-Disease rs10988 0.2002 -
Q9P2J5 non-pleiotropic VAR_070438 p.Tyr373Cys Disease - - Infantile liver failure syndrome 1 (ILFS1) [MIM:615438]
Q15031 non-pleiotropic VAR_070094 p.Thr522Asn Disease - - Perrault syndrome 4 (PRLTS4) [MIM:615300]
Q15031 non-pleiotropic VAR_052639 p.Glu831Asp Non-Disease rs9827689 0.0179 -
Q15031 non-pleiotropic VAR_070095 p.Thr629Met Disease - - Perrault syndrome 4 (PRLTS4) [MIM:615300]
Q15031 non-pleiotropic VAR_052638 p.Lys727Asn Non-Disease rs36054230 0.0083 -
P09848 non-pleiotropic VAR_055883 p.Val1593Met Non-Disease rs35891837 0.011 -
P09848 non-pleiotropic VAR_026705 p.Val219Ile Non-Disease rs3754689 0.3393 -
P09848 non-pleiotropic VAR_055882 p.Ser190Leu Non-Disease rs35156533 0.0018 -
P09848 non-pleiotropic VAR_026709 p.Asn1639Ser Non-Disease rs2322659 0.4885 -
P09848 non-pleiotropic VAR_026707 p.Ile362Val Non-Disease rs4954449 0.0188 -
P09848 non-pleiotropic VAR_026708 p.Gly1363Ser Disease - - Congenital lactase deficiency (COLACD) [MIM:223000]
P09848 non-pleiotropic VAR_026706 p.Gln268His Disease - - Congenital lactase deficiency (COLACD) [MIM:223000]
Q5SW96 non-pleiotropic VAR_028403 p.Ser202Pro Non-Disease rs6687605 0.4587 -
Q5SW96 non-pleiotropic VAR_023320 p.Ser202His Disease - - Hypercholesterolemia, autosomal recessive (ARH) [MIM:603813]
O00292 non-pleiotropic VAR_010385 p.Ser342Asn Disease - - Left-right axis malformations (LRAM) [MIM:601877]
O00292 non-pleiotropic VAR_021980 p.Ser92Leu Non-Disease rs366439 0.0002 -
O00292 non-pleiotropic VAR_021981 p.Pro286Leu Non-Disease rs2295418 0.0511 -
P41159 non-pleiotropic VAR_008094 p.Arg105Trp Disease rs104894023 - Leptin deficiency (LEPD) [MIM:614962]
P41159 non-pleiotropic VAR_004197 p.Val94Met Non-Disease rs17151919 0.0202 -
P41159 non-pleiotropic VAR_011955 p.Val110Met Non-Disease rs1800564 - -
Q8IVL5 non-pleiotropic VAR_066637 p.Gly508Val Disease - - Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]
Q8NES3 non-pleiotropic VAR_046786 p.Val346Met Non-Disease rs71647813 0.0037 -
Q8NES3 non-pleiotropic VAR_025850 p.Phe188Leu Disease - - Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]
Q8NES3 non-pleiotropic VAR_046785 p.Gly38Arg Non-Disease - - -