DisGeNET - a database of gene-disease associations

List of associated variants

LACTASE PERSISTENCE, C1857231

Source: ALL

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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
rs4988235	MCM6	0.752	0.400	2	135851076	intron variant	G/A;C	snv			19
rs182549	MCM6			2	135859184	intron variant	C/T	snv		0.41	4
rs309180	MCM6			2	135856685	intron variant	G/A	snv	0.54	0.50	2
rs3754686	MCM6			2	135845706	intron variant	T/C	snv		0.51	2
rs1220047339	GLB1 ; LOC107986073			3	33018492	missense variant	G/A	snv			1
rs145946881	MCM6			2	135851176	intron variant	C/G;T	snv			1
rs41380347	MCM6			2	135851081	intron variant	A/C;G	snv			1
rs41525747	MCM6			2	135851073	intron variant	G/C	snv		3.5E-05	1
rs869051967	MCM6			2	135851175	intron variant	A/C	snv		3.5E-05	1