DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Age at menarche ×

Variants associated to the Gene: JHY ×

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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
rs144048300	JHY			11	122934355	intron variant	A/T	snv		4.0E-03	1
rs7113019	JHY			11	122948411	intron variant	A/C	snv		0.55	1
rs7115813	JHY			11	122961366	3 prime UTR variant	A/C;G	snv			1