DisGeNET - a database of gene-disease associations

List of associated variants

ovarian neoplasm, C0919267

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
rs34344307		1.000	0.120	16	77008512	intergenic variant	TTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT	delins			1
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs515726060	PALB2	0.925	0.160	16	23635493	frameshift variant	TTTG/-	delins		7.0E-06	3
rs80357609	BRCA1	0.851	0.200	17	43091827	frameshift variant	TTTAC/-	delins			5
rs34357515	NCLN	1.000	0.120	19	3197622	intron variant	TTT/-;T;TT;TTTT;TTTTT;TTTTTT;TTTTTTT	delins			1
rs763009188	BRIP1	0.925	0.240	17	61857144	frameshift variant	TTGT/-	delins	8.0E-06	7.0E-06	3
rs1566233171	BRCA2	1.000	0.120	13	32340115	frameshift variant	TTGCTGACATT/-	delins			1
rs1555616143	BRIP1	0.882	0.280	17	61849155	frameshift variant	TTCTT/-	delins			4
rs1561199329	MAP3K1	1.000	0.120	5	56881709	inframe deletion	TTAGAAATGCTG/-	delins			1
rs768736851	BRIP1	0.925	0.240	17	61793641	frameshift variant	TTAAG/-	delins	4.1E-06		3
rs80357655	BRCA1	0.882	0.200	17	43070969	frameshift variant	TT/-;T	delins			4
rs1057519365	BRIP1	0.851	0.320	17	61780931	frameshift variant	TT/-	delins			5
rs730881649	BRIP1	0.882	0.280	17	61744433	frameshift variant	TT/-	delins	1.2E-05	3.5E-05	4
rs771028677	BRIP1	0.882	0.280	17	61684053	frameshift variant	TGTT/-;TGTTTGTT	delins		2.1E-05	4
rs1564570283	PTEN	1.000	0.120	10	87965294	frameshift variant	TGTACTTCACAAAAACA/-	del			1
rs1567553658	TP53	1.000	0.120	17	7675149	frameshift variant	TGCC/-	del			1
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs587780224	BRIP1	0.925	0.240	17	61801266	frameshift variant	TG/-	delins	4.0E-06		3
rs80357534	BRCA1	0.882	0.200	17	43074472	frameshift variant	TG/-	delins			3
rs80359876	BRCA1	0.851	0.200	17	43070932	frameshift variant	TCTTCTGGGGTCAGGCCAG/-	del			5
rs80359596	BRCA2	0.827	0.240	13	32340817	frameshift variant	TCTC/-;TC;TCTCTC	delins			6
rs1567542043	TP53	1.000	0.120	17	7670675	frameshift variant	TCAGCTCT/-	delins			1
rs1565416788	ATM	1.000	0.120	11	108267302	frameshift variant	TAGTGATGCAAAC/-	del			1
rs1567797661	BRCA1	1.000	0.120	17	43093592	frameshift variant	TAGAACAACTATCAATTTGC/-	delins			1
rs876658297	RAD51L3-RFFL ; RAD51D	0.925	0.120	17	35107108	frameshift variant	TACA/-	delins		7.0E-06	3