DisGeNET - a database of gene-disease associations

List of associated variants

Folic Acid Deficiency, C0016412

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
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
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs9606756	TCN2	0.790	0.160	22	30610873	missense variant	A/G	snv	0.12	0.14	7
rs764832386	SS18L1	1.000	0.040	20	62163578	missense variant	T/C	snv	4.2E-06	7.0E-06	3