DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Malignant neoplasm of breast

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
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs11225395	MMP8	0.776	0.360	11	102725749	intron variant	A/C;G	snv			11
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1800054	ATM	0.827	0.080	11	108227849	missense variant	C/G;T	snv	7.1E-03		7
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs13006529	CASP10	0.851	0.080	2	201217736	missense variant	T/A	snv	0.41	0.42	7
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs10931936	CASP8	0.827	0.120	2	201279205	intron variant	T/C	snv		0.72	6
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs104894097	CDKN2A	0.807	0.240	9	21974757	missense variant	C/A;G;T	snv	1.7E-05; 1.3E-05		8