DisGeNET - a database of gene-disease associations

List of shared variants

Craniosynostosis, C0010278

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
rs121918491	FGFR2	0.716	0.440	10	121517371	synonymous variant	C/T	snv	4.0E-06		15
rs28931615	FGFR3	0.732	0.240	4	1804426	missense variant	C/A;T	snv			13
rs374608214	FGFR2	0.742	0.160	10	121520010	missense variant	G/C	snv	4.0E-06	7.0E-06	13
rs121909627	FGFR1	0.776	0.200	8	38424690	missense variant	G/C	snv	4.0E-06		8
rs121918488	FGFR2	0.790	0.120	10	121517379	missense variant	A/C;G;T	snv			7
rs776587763	FGFR2	0.790	0.120	10	121520085	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		7
rs121918501	FGFR2	0.807	0.080	10	121520050	missense variant	A/C;G	snv			6
rs121918506	FGFR2	0.882	0.080	10	121496701	missense variant	T/C;G	snv			3