DisGeNET - a database of gene-disease associations

List of shared variants

Kallmann Syndrome 2 (disorder), C1563720

Disease: Pfeiffer Syndrome

Source: ALL

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
rs121909641	FGFR1	0.763	0.520	8	38419720	missense variant	G/A	snv			9
rs121909627	FGFR1	0.776	0.200	8	38424690	missense variant	G/C	snv	4.0E-06		8
rs1554552774	FGFR1	0.925	0.200	8	38418227	splice donor variant	C/T	snv			2
rs1554570706	FGFR1	0.925	0.200	8	38429808	missense variant	G/A	snv			2
rs1554570813	FGFR1	0.925	0.200	8	38429826	stop gained	G/A	snv			2