INS, insulin, 3630

N. diseases: 405; N. variants: 37
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356663
rs80356663
0.925 0.120 11 2160901 missense variant G/A;T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356672
rs80356672
0.925 0.120 11 2159862 missense variant T/C snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014