DisGeNET - a database of gene-disease associations

List of associated variants

Congenital digestive system anomalies, C0266015

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
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1554386687	CAMK2B	0.882	0.040	7	44242328	missense variant	C/T	snv			12
rs1554402092	CAMK2B	1.000		7	44254555	missense variant	C/T	snv			8
rs1554385305	CAMK2B	0.925	0.040	7	44241784	splice acceptor variant	C/T	snv			7
rs113331868	CAMK2A			5	150228191	splice donor variant	C/A;T	snv			6