DisGeNET - a database of gene-disease associations

List of shared variants

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY, C1856058

Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

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
rs121434296	MTHFR	0.882	0.040	1	11794766	missense variant	G/A	snv	2.0E-05	3.5E-05	3
rs121434295	MTHFR	0.925		1	11801166	missense variant	C/T	snv	3.6E-05	2.1E-05	2
rs121434297	MTHFR	0.925		1	11795161	missense variant	A/G	snv	1.2E-05	7.0E-06	2
rs267606886	MTHFR	0.925		1	11795114	missense variant	A/C	snv			2
rs267606887	MTHFR	0.925		1	11795158	missense variant	T/C	snv			2