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 6 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q09428 pleiotropic VAR_008646 p.Phe591Leu Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008639 p.Arg74Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031383 p.Ala1457Thr Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031374 p.Asn1295Lys Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031379 p.Ser1386Phe Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008658 p.Val1572Ile Non-Disease rs8192690 0.0317 -
Q09428 pleiotropic VAR_015009 p.Glu1506Lys Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031357 p.Met233Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031368 p.Arg841Gly Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008647 p.Asp810Asn Non-Disease - - -
Q09428 pleiotropic VAR_008650 p.Arg1214Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008643 p.Arg275Gln Non-Disease - - -
Q09428 pleiotropic VAR_031361 p.Glu501Lys Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031359 p.Cys418Arg Disease rs67254669 0.0008 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008645 p.Val560Met Non-Disease rs4148619 0.0046 -
Q09428 pleiotropic VAR_031370 p.Ser956Phe Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029778 p.Phe132Leu Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428 pleiotropic VAR_008648 p.Arg834Cys Non-Disease - - -
Q09428 pleiotropic VAR_029783 p.Arg1182Gln Disease - - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428 pleiotropic VAR_031364 p.Pro551Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031351 p.Phe27Ser Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_015007 p.Val1360Met Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008640 p.His125Gln Disease rs60637558 - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029785 p.Arg1379Cys Disease - - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
O60706 pleiotropic VAR_068490 p.Ser1020Pro Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068489 p.Ala478Val Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068486 p.Asp207Glu Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068491 p.Phe1039Ser Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_048143 p.Pro1108Ser Non-Disease rs35404804 0.0124 -
O60706 pleiotropic VAR_068492 p.Cys1043Tyr Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068495 p.Arg1116His Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068488 p.Pro432Leu Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068494 p.Arg1116Cys Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068493 p.Ser1054Tyr Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_018483 p.Ala1513Thr Disease - - Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]
O60706 pleiotropic VAR_068487 p.Gly380Cys Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068497 p.Arg1154Trp Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_066210 p.Thr1547Ile Disease - - Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]
O60706 pleiotropic VAR_068485 p.His60Tyr Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O60706 pleiotropic VAR_068496 p.Arg1154Gln Disease - - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
O14678 non-pleiotropic VAR_069097 p.Tyr319Cys Disease rs201777056 - Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]
O14678 non-pleiotropic VAR_048134 p.Val172Ile Non-Disease rs34992370 0.0606 -
O14678 non-pleiotropic VAR_020778 p.Ala304Thr Non-Disease rs4148077 0.27 -
O14678 non-pleiotropic VAR_020222 p.Glu368Lys Non-Disease rs3742801 0.27 -
O14678 non-pleiotropic VAR_048135 p.Thr350Arg Non-Disease rs35073715 0.0142 -
Q9H222 non-pleiotropic VAR_033457 p.Thr517Ser Non-Disease rs17031672 0.0073 -
Q9H222 non-pleiotropic VAR_020784 p.Met622Val Non-Disease rs140374206 0.0032 -
Q9H222 non-pleiotropic VAR_020783 p.Cys600Tyr Non-Disease - - -
Q9H222 non-pleiotropic VAR_012244 p.Glu146Gln Disease - - Sitosterolemia (STSL) [MIM:210250]
Q9H222 non-pleiotropic VAR_012249 p.Gln604Glu Non-Disease rs6720173 0.2112 -