DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Carcinoma, Ovarian Epithelial

Source: BEFREE ×

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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 GENOME	Num. diseases
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv	0.36	40
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv	0.28	59
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv	0.40	19
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv	0.51	58
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		213
rs11655505	NBR2 ; BRCA1	0.776	0.160	17	43126360	intron variant	G/A	snv	0.31	8
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv		62
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv		16
rs13281615	CASC8 ; POU5F1B ; PCAT1 ; CASC21	0.716	0.360	8	127343372	intron variant	A/G	snv	0.43	17
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins		36
rs1467465	THEMIS2	0.827	0.160	1	27884892	non coding transcript exon variant	A/G	snv	0.61	7
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv	0.43	37
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv		78
rs16917496	KMT5A	0.689	0.360	12	123409283	3 prime UTR variant	C/G;T	snv		21
rs16949649	NME1 ; NME1-NME2	0.776	0.200	17	51152947	upstream gene variant	T/C	snv	0.39	12
rs17251221	CASR	0.724	0.360	3	122274400	intron variant	A/G	snv	0.11	16
rs1760944	OSGEP ; APEX1	0.672	0.480	14	20454990	non coding transcript exon variant	T/C;G	snv		26
rs1801200	ERBB2	0.790	0.200	17	39723335	missense variant	A/G;T	snv		7
rs1836724	ERBB4	0.807	0.240	2	211380227	3 prime UTR variant	G/A	snv	0.57	6
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv	0.28	22
rs2107425	MRPL23 ; H19	0.732	0.280	11	1999845	intron variant	C/T	snv		16