DisGeNET - a database of gene-disease associations

List of shared variants

Neural Tube Defects, C0027794

Disease: Adenoma of large intestine

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
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16