DisGeNET - a database of gene-disease associations

List of associated variants

3C syndrome, C0796137

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
rs1462319941	WASHC5	0.925	0.200	8	125081668	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs1563627853	WASHC5	0.925	0.200	8	125067721	splice acceptor variant	T/C	snv			2
rs1563633906	WASHC5	0.925	0.200	8	125078744	stop gained	-/T	delins			2
rs754463353	WASHC5	0.925	0.200	8	125078767	stop gained	G/A	snv	8.0E-06		2
rs765926045	WASHC5	0.925	0.200	8	125038889	frameshift variant	GT/-	delins	8.0E-06	7.0E-06	2
rs80338867	WASHC5	0.925	0.200	8	125056817	missense variant	C/A	snv			2