DisGeNET - a database of gene-disease associations

List of associated variants

Piebaldism, C0080024

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
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv		0.28	14
rs1560419312	KIT	1.000	0.120	4	54729344	missense variant	T/G	snv			4
rs387907217	KIT	0.882	0.120	4	54727907	missense variant	T/C	snv			4
rs121913680	KIT	0.925	0.200	4	54727515	missense variant	G/A	snv			3
rs121913684	KIT	0.925	0.120	4	54733094	missense variant	A/G	snv			2
rs33932559	MC1R	0.925	0.160	16	89919617	missense variant	T/C	snv	3.1E-03	1.1E-03	2
rs121913679	KIT	1.000	0.120	4	54728121	missense variant	G/A	snv			1
rs121913687	KIT	1.000	0.120	4	54736552	missense variant	A/C	snv			1
rs28933371	KIT	1.000	0.120	4	54727519	missense variant	T/G	snv			1
rs794726671	KIT	1.000	0.120	4	54727520	missense variant	T/G	snv			1
rs794726672	KIT	1.000	0.120	4	54728055	frameshift variant	AA/-	delins			1
rs794726673	KIT	1.000	0.120	4	54727448	frameshift variant	-/G	delins			1
rs794726674	KIT	1.000	0.120	4	54695696	frameshift variant	G/-	delins			1
rs794726675	KIT	1.000	0.120	4	54727928	splice donor variant	G/A	snv			1