Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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] |