DisGeNET - a database of gene-disease associations

List of associated variants

Acanthosis Nigricans, C0000889

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
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs1014959895	PRMT7	0.763	0.360	16	68329105	stop gained	G/C;T	snv	4.0E-06; 1.6E-05		16
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06		15
rs28931615	FGFR3	0.732	0.240	4	1804426	missense variant	C/A;T	snv			13
rs587779383	FGFR3	0.851	0.120	4	1806157	missense variant	A/C;G;T	snv			5
rs2963	INSR	0.851	0.240	19	7163143	synonymous variant	G/A	snv	9.8E-02	0.13	4
rs121913135	INSR	0.882	0.120	19	7125437	missense variant	C/A	snv			3
rs1445362103	ARHGEF7	1.000	0.040	13	111244248	missense variant	T/C	snv	1.2E-05	7.0E-06	2
rs587777260	TBC1D4	0.925	0.080	13	75359852	stop gained	G/A;T	snv	4.0E-06		2
rs752411521	CBFA2T2	1.000	0.040	20	33624825	missense variant	T/C	snv	4.0E-06		1