DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Body Height ×

Variants associated to the Gene: HMGA2 ×

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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
rs1351394	HMGA2			12	65958046	3 prime UTR variant	T/C;G	snv			4
rs8756	HMGA2	0.882	0.200	12	65965972	3 prime UTR variant	C/A	snv		0.56	4
rs1042725	HMGA2	0.882	0.080	12	65964567	3 prime UTR variant	C/T	snv		0.48	3
rs12371967	HMGA2			12	65952934	3 prime UTR variant	T/C	snv		0.12	1
rs17179670	HMGA2			12	65956032	3 prime UTR variant	A/G	snv		0.16	1
rs73121716	HMGA2			12	65924437	intron variant	C/T	snv		1.1E-02	1
rs7979673	HMGA2			12	65833477	intron variant	C/A;T	snv			1