DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cutaneous Melanoma ×

Variants associated to the Gene: CNOT9 ×

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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
rs1057519956	CNOT9	0.827	0.200	2	218583025	missense variant	T/C	snv			5
rs1057519957	CNOT9	0.827	0.200	2	218583026	missense variant	C/G	snv			5
rs1057519955	CNOT9	1.000	0.080	2	218584682	missense variant	C/T	snv			1
rs267599211	CNOT9	0.882	0.080	2	218584683	missense variant	C/T	snv			1