DisGeNET - a database of gene-disease associations

List of associated variants

Learning difficulties, C0424939

Source: CLINVAR ×

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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
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs121913528	KRAS	0.851	0.160	12	25227349	missense variant	C/A;T	snv			11
rs398123316	PTEN	0.851	0.160	10	87925530	missense variant	A/G;T	snv			8
rs587777011	FAM111A	0.925	0.160	11	59153374	missense variant	G/A	snv			7
rs786200963	CACNA1A	0.827	0.200	19	13371683	splice region variant	C/T	snv			6
rs863225460	PIK3CA	0.882	0.200	3	179199160	missense variant	T/A	snv			3