DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Low density lipoprotein cholesterol measurement ×

Variants associated to the Gene: HNF1A ×

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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
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		8
rs2244608	HNF1A ; HNF1A-AS1	0.882	0.160	12	120979185	intron variant	A/G	snv		0.29	6
rs1183910	HNF1A	1.000	0.080	12	120983004	intron variant	G/A	snv		0.28	3