DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cardiovascular Diseases ×

Variants associated to the Gene: MTHFR ×

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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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1194897557	MTHFR	0.827	0.240	1	11796276	missense variant	A/G	snv	8.0E-06		7
rs765625943	MTHFR	0.882	0.200	1	11803417	missense variant	G/A	snv	4.3E-06		4