DisGeNET - a database of gene-disease associations

List of shared variants

Body Height, C0005890

Disease: Mean Corpuscular Volume (result)

Source: GWASCAT ×

Results per page

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
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	25
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	21
rs2277339	HSD17B6 ; PRIM1			12	56752285	missense variant	T/G	snv	0.12	0.14	10
rs74929147				19	18302251	downstream gene variant	G/A;C	snv			4
rs531184891	KDM2A			11	67129907	intron variant	AA/-;A;AAA	delins		5.0E-02	3
rs2040494	CDK6			7	92627591	intron variant	C/T	snv		0.64	2
rs732716	SH3GL1			19	4366222	intron variant	A/G	snv		0.23	2