DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Nail dysplasia ×

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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
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs1057518951	ARID1B	0.827	0.160	6	156829296	stop gained	C/T	snv			5