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 21 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P51649 non-pleiotropic VAR_026203 p.Asn255Ser Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026204 p.Gly268Glu Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026201 p.Cys223Tyr Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_016758 p.His180Tyr Non-Disease rs2760118 0.3067 -
P51649 non-pleiotropic VAR_026229 p.Val406Ile Non-Disease - - -
P51649 non-pleiotropic VAR_016759 p.Pro182Leu Non-Disease rs3765310 0.045 -
P51649 non-pleiotropic VAR_026210 p.Gly533Arg Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
Q02252 non-pleiotropic VAR_010244 p.Gly446Arg Disease - - Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]
P49419 non-pleiotropic VAR_069184 p.Gly202Val Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_069186 p.Asn301Ile Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_069189 p.Ser458Asn Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_031718 p.Ala199Val Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_028202 p.Thr412Ala Non-Disease rs2306618 0.0165 -
P49419 non-pleiotropic VAR_031719 p.Glu427Gln Disease rs121912707 0.0002 Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_069185 p.Gly291Glu Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_069188 p.Val395Gly Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P49419 non-pleiotropic VAR_028203 p.Lys439Gln Non-Disease rs12514417 0.0968 -
P49419 non-pleiotropic VAR_069187 p.Arg335Gln Disease - - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
P04075 non-pleiotropic VAR_044143 p.Cys339Tyr Disease - - Glycogen storage disease 12 (GSD12) [MIM:611881]
P04075 non-pleiotropic VAR_044142 p.Glu207Lys Disease - - Glycogen storage disease 12 (GSD12) [MIM:611881]
P04075 non-pleiotropic VAR_044144 p.Gly347Ser Disease rs138824667 0.0008 Glycogen storage disease 12 (GSD12) [MIM:611881]
P04075 non-pleiotropic VAR_048220 p.Gly142Val Non-Disease rs11553108 - -
P04075 non-pleiotropic VAR_048219 p.Glu82Gln Non-Disease rs11553107 - -
P04075 non-pleiotropic VAR_000550 p.Asp129Gly Disease - - Glycogen storage disease 12 (GSD12) [MIM:611881]
P05062 non-pleiotropic VAR_020828 p.Arg304Gln Disease rs145078268 0.0002 Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_058211 p.Cys178Arg Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000554 p.Ala175Asp Disease rs76917243 0.0004 Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_020824 p.Pro185Arg Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000551 p.Cys135Arg Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_020826 p.Val222Phe Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_038430 p.Ile268Asn Non-Disease rs10989495 - -
P05062 non-pleiotropic VAR_038429 p.Arg134Ser Non-Disease rs10123355 0.0032 -
P05062 non-pleiotropic VAR_020822 p.Ile74Thr Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000557 p.Asn335Lys Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000553 p.Ala150Pro Disease rs1800546 0.0018 Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000556 p.Arg304Trp Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000558 p.Ala338Val Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_020827 p.Leu229Pro Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_000555 p.Leu257Pro Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
P05062 non-pleiotropic VAR_020825 p.Glu207Gln Non-Disease rs3739721 0.0069 -
P05062 non-pleiotropic VAR_058212 p.Leu284Pro Disease - - Hereditary fructose intolerance (HFI) [MIM:229600]
Q9BT22 non-pleiotropic VAR_038425 p.Ser267Asn Non-Disease rs17849848 0.0964 -
Q9BT22 non-pleiotropic VAR_038426 p.Leu325Met Non-Disease rs17852920 - -
Q9BT22 non-pleiotropic VAR_038427 p.Gln455Arg Non-Disease rs17856919 - -
Q9BT22 non-pleiotropic VAR_023364 p.Ser150Arg Disease rs121908340 0.0002 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22 non-pleiotropic VAR_023367 p.Asp429Glu Non-Disease rs9745522 0.1194 -
Q9BT22 non-pleiotropic VAR_023366 p.Gln342Pro Disease - - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22 non-pleiotropic VAR_023365 p.Ser258Leu Disease rs28939378 - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
Q9BT22 non-pleiotropic VAR_049350 p.Arg438Trp Non-Disease rs16835020 - -
Q2TAA5 non-pleiotropic VAR_064908 p.Leu86Ser Disease - - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]