DisGeNET - a database of gene-disease associations

List of associated variants

Endometrial Neoplasms, C0014170

Source: CLINVAR ×

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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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		18
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			17
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			14
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			13
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv			11
rs1057519854	FGFR2	0.882	0.080	10	121488063	missense variant	A/T	snv			5
rs1057519901	FGFR2	0.925	0.080	10	121498525	missense variant	T/G	snv			5
rs387906678	FGFR2	0.851	0.120	10	121515263	missense variant	A/C;G	snv			5
rs121913477	FGFR2	1.000	0.120	10	121515289	missense variant	G/C;T	snv			2
rs1057520027	FGFR2			10	121488005	missense variant	T/C	snv			1
rs1057520028	FGFR2			10	121515283	missense variant	T/C	snv			1
rs1057520029	FGFR2	0.925	0.120	10	121488003	missense variant	T/A	snv			1
rs121913475	FGFR2			10	121519989	missense variant	T/C	snv			1