Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748749585
rs748749585
INS ; INS-IGF2
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 CausalMutation CLINVAR Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. 21592955

2011
dbSNP: rs748749585
rs748749585
INS ; INS-IGF2
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 CausalMutation CLINVAR Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. 20133622

2010
dbSNP: rs748749585
rs748749585
INS ; INS-IGF2
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		T 0.700 CausalMutation CLINVAR Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. 20938745

2010