DisGeNET - a database of gene-disease associations

List of shared variants

Saethre-Chotzen Syndrome, C0175699

Disease: Pfeiffer Syndrome

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
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			28
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			17
rs121918491	FGFR2	0.716	0.440	10	121517371	synonymous variant	C/T	snv	4.0E-06		15
rs1554927408	FGFR2	0.742	0.480	10	121515254	missense variant	C/T	snv			12
rs1057519044	FGFR2	0.752	0.440	10	121517390	missense variant	C/T	snv			11
rs1434545235	FGFR2	0.752	0.440	10	121565500	missense variant	T/C	snv	4.0E-06		11
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8