DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Hyperglycemia ×

Variants associated to the Gene: HNF4A ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1375557127	HNF4A	0.925	0.080	20	44424123	missense variant	G/A	snv	4.0E-06		2
rs1392795567	HNF4A	0.925	0.080	20	44414663	splice donor variant	G/A	snv			2
rs1385251852	MIR3646 ; HNF4A	0.925	0.080	20	44406208	frameshift variant	G/-	delins			2
rs1568724014	MIR3646 ; HNF4A	0.925	0.080	20	44407421	stop gained	C/T	snv			2
rs1018185646	HNF4A	1.000	0.040	20	44428455	missense variant	T/C	snv	4.0E-06		1