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 199 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q14654 pleiotropic VAR_026505 p.Val59Met Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026513 p.Pro254Leu Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_026503 p.Gly53Ser Disease - - Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654 pleiotropic VAR_001557 p.Leu147Pro Disease rs28936678 - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_026501 p.Gln52Arg Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026499 p.Phe35Val Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026500 p.Arg50Pro Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031329 p.Arg34His Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_014929 p.Arg195His Non-Disease rs5217 0.0008 -
Q14654 pleiotropic VAR_026509 p.Lys170Arg Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026517 p.Phe333Ile Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031337 p.Ser116Pro Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_026498 p.Phe35Leu Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_008659 p.Glu10Lys Non-Disease - - -
Q14654 pleiotropic VAR_031338 p.Gly134Ala Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031341 p.Leu164Pro Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031334 p.Gly53Asp Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026504 p.Val59Gly Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031344 p.Arg201Leu Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031348 p.Tyr330Ser Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026507 p.Trp91Arg Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031346 p.Pro266Leu Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031336 p.Ala101Asp Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_026516 p.Tyr330Cys Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_008665 p.Ser385Cys Non-Disease rs41282930 0.011 -
Q14654 pleiotropic VAR_026514 p.Ile296Leu Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026515 p.Glu322Lys Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031332 p.His46Tyr Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026506 p.Lys67Asn Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031333 p.Arg50Gln Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031343 p.Lys170Thr Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031331 p.Cys42Arg Disease - - Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654 pleiotropic VAR_026510 p.Ile182Val Disease - - Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654 pleiotropic VAR_008660 p.Glu23Lys Non-Disease rs5219 0.263 -
Q14654 pleiotropic VAR_026512 p.Arg201His Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031330 p.Gly40Asp Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031347 p.Arg301His Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031335 p.Phe55Leu Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_031340 p.Ile148Ser Non-Disease - - -
Q14654 pleiotropic VAR_026502 p.Gly53Arg Disease - - Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
Q14654 pleiotropic VAR_031342 p.Cys166Tyr Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_031339 p.Arg136Leu Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_008662 p.Ile337Val Non-Disease rs5215 0.2694 -
Q14654 pleiotropic VAR_055978 p.Ala18Gly Non-Disease rs41309072 - -
Q14654 pleiotropic VAR_031345 p.His259Arg Disease - - Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]
Q14654 pleiotropic VAR_026511 p.Arg201Cys Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q14654 pleiotropic VAR_026508 p.Lys170Asn Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
B7U540 non-pleiotropic VAR_063288 p.Thr354Met Disease - - Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540 non-pleiotropic VAR_063287 p.Arg205His Disease - - Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
B7U540 non-pleiotropic VAR_063286 p.Thr140Met Disease - - Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]