DisGeNET - a database of gene-disease associations

Disease: Brachycephaly

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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36