DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Glioma

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
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs2298881	ERCC1	0.653	0.400	19	45423658	intron variant	C/A;T	snv			25
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs2279115	BCL2	0.724	0.320	18	63319604	5 prime UTR variant	G/A;T	snv			18
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1625895	TP53	0.752	0.200	17	7674797	non coding transcript exon variant	T/A;C;G	snv	9.1E-06; 0.86; 4.5E-06		13
rs1800371	TP53	0.742	0.240	17	7676230	missense variant	G/A;T	snv	1.2E-03		15
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1044129	AVEN ; RYR3	0.790	0.200	15	33866065	3 prime UTR variant	A/G;T	snv			9
rs10519097	RORA	0.708	0.320	15	60997989	intron variant	C/T	snv		0.13	18
rs7164773	RORA	0.790	0.240	15	60775749	intron variant	C/A;T	snv			10
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52