NEUROD1, neuronal differentiation 1, 4760

N. diseases: 135; N. variants: 8
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) ×
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: rs763092306
rs763092306 		1.000 0.080 2 181678533 missense variant C/T snv
CUI: C1853371
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 1999 2016
dbSNP: rs149703259
rs149703259 		0.925 0.080 2 181678552 synonymous variant G/C;T snv 4.0E-06
CUI: C1853371
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906384
rs387906384 		1.000 0.080 2 181678245 frameshift variant GGG/-;GGGG delins 4.0E-06
CUI: C1853371
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0