DisGeNET - a database of gene-disease associations

List of associated variants

Neural tube defect, folate-sensitive, C1866558

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
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs34181110	MTHFD1	0.882	0.080	14	64425752	missense variant	G/A	snv	1.7E-03	2.4E-03	3