DisGeNET - a database of gene-disease associations

List of associated variants

Uveal melanoma, C0220633

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs121913492	GNAQ	0.790	0.160	9	77794572	missense variant	T/A;C;G	snv			11
rs1057519742	GNA11	0.827	0.160	19	3118944	missense variant	A/C;T	snv			7
rs869025212	BAP1	0.827	0.200	3	52403428	frameshift variant	G/-	delins			6
rs1057519853	GNAQ	0.851	0.080	9	77794572	missense variant	TG/AA	mnv			6
rs1568763104	PLCB4	0.882	0.160	20	9409106	missense variant	G/A;T	snv			3
rs387906849	BAP1	0.925	0.080	3	52405897	stop gained	G/A	snv			2
rs452932	CLPTM1L	0.925	0.160	5	1330138	intron variant	T/C	snv		0.46	2
rs3759710	EFCAB11 ; TDP1	0.925	0.080	14	89955214	5 prime UTR variant	G/C	snv		0.16	2
rs200758755	MBD4	1.000	0.080	3	129431556	stop gained	A/G;T	snv	4.0E-06; 3.2E-05		2
rs760583024	MRGPRX1	1.000	0.080	11	18934156	missense variant	G/A;T	snv	8.0E-06		2
rs10985729	OR1B1	0.925	0.080	9	122601929	intron variant	A/G	snv		0.25	2
rs9307941		1.000	0.080	4	156195774	intergenic variant	A/T	snv		0.85	1
rs1559588632	BAP1	1.000	0.080	3	52405266	splice acceptor variant	CATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAG/-	delins			1
rs138663667	CACNA2D1	1.000	0.080	7	82276774	intron variant	G/T	snv		0.13	1
rs13013614	LRP1B	1.000	0.080	2	140964558	intron variant	A/G;T	snv			1
rs11074306	OCA2	1.000	0.080	15	27799396	intron variant	G/A	snv		0.33	1
rs10758299	RFX3	1.000	0.080	9	3526656	upstream gene variant	A/C	snv		0.12	1
rs2242330	STAP1	1.000	0.080	4	67581531	intron variant	A/G	snv		0.20	1