DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Brachyturricephaly ×

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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
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			24
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			24