DisGeNET - a database of gene-disease associations

List of shared variants

Depressed nasal bridge, C1836542

Disease: Short neck

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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27