DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Carcinoma of lung ×

Variants associated to the Gene: MTHFR ×

Results per page

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	169
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	92
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs768873896	MTHFR	0.790	0.160	1	11794822	missense variant	C/G;T	snv	8.0E-06; 2.4E-05		7
rs200100285	MTHFR	0.851	0.080	1	11796313	missense variant	T/C;G	snv	1.9E-04		3
rs781742574	MTHFR	0.882	0.080	1	11800254	missense variant	T/C	snv	4.0E-06		3