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 5 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q09428 pleiotropic VAR_031372 p.Leu1147Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031358 p.Asp310Asn Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008540 p.Arg1493Trp Disease rs28936371 - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008539 p.Arg1420Cys Disease rs28938469 - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031386 p.Arg1486Lys Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031378 p.Lys1384Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031382 p.Leu1450Pro Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031375 p.Lys1336Asn Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008644 p.Asn406Asp Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031389 p.Leu1551Val Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031369 p.Lys889Thr Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031355 p.Gly111Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031376 p.Gly1342Glu Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029781 p.Leu582Val Disease - - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428 pleiotropic VAR_031373 p.Arg1214Trp Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008651 p.Val1360Gly Non-Disease - - -
Q09428 pleiotropic VAR_008656 p.Gly1478Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029782 p.His1023Tyr Disease - - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428 pleiotropic VAR_031350 p.Val21Asp Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008653 p.Gly1378Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029784 p.Arg1352His Disease - - Leucine-induced hypoglycemia (LIH) [MIM:240800]
Q09428 pleiotropic VAR_031387 p.Arg1493Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008537 p.Arg1352Pro Disease rs28936370 - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031377 p.Leu1349Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031352 p.Gly70Glu Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031360 p.Arg495Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008654 p.Gly1381Ser Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008649 p.Thr1138Met Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029787 p.Ile1424Val Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428 pleiotropic VAR_000100 p.Gly716Val Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031388 p.Val1550Asp Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031367 p.Lys719Thr Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_015010 p.Leu1543Pro Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029780 p.Cys435Arg Disease - - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
Q09428 pleiotropic VAR_008641 p.Val187Asp Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008642 p.Asn188Ser Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031371 p.Thr1130Pro Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_008655 p.Arg1393His Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031366 p.Phe686Ser Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031353 p.Arg74Trp Disease rs201682634 0.0002 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031354 p.Val86Ala Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428 pleiotropic VAR_031349 p.Gly7Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_015006 p.Asp673Asn Non-Disease - - -
Q09428 pleiotropic VAR_031381 p.Arg1418His Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031362 p.Leu503Pro Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031365 p.Arg620Cys Disease rs58241708 0.002 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031384 p.Asp1471His Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031380 p.Gly1400Arg Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029779 p.Leu213Arg Disease - - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
Q09428 pleiotropic VAR_031356 p.Ala116Pro Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]