DisGeNET - a database of gene-disease associations

List of associated variants

Neoplastic Syndromes, Hereditary, C0027672

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
rs786202193	FBXO11 ; MSH6			2	47791059	frameshift variant	TTTTTTGATGACAG/-	delins			1
rs766044684	NBN	1.000	0.040	8	89953438	frameshift variant	TTTTT/-;T;TTTTTT	delins			2
rs80357575	BRCA1	0.925	0.200	17	43092202	frameshift variant	TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT	delins			3
rs1131691232	DICER1			14	95116453	frameshift variant	TTTTC/-	delins			1
rs587782653	NBN			8	89946211	frameshift variant	TTTTAATCACCAGT/-	delins			1
rs80357770	BRCA1	0.925	0.200	17	43094141	frameshift variant	TTTT/CTTTC;NNNNN;TTT;TTTTT	delins			3
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs1060502759	PALB2	1.000	0.080	16	23630447	frameshift variant	TTTT/-;TT;TTT	delins			2
rs786202253	MRE11			11	94478768	frameshift variant	TTTGAAGC/-	del			1
rs515726060	PALB2	0.925	0.160	16	23635493	frameshift variant	TTTG/-	delins		7.0E-06	3
rs121913320	STK11	1.000	0.160	19	1221265	frameshift variant	TTTG/-	delins			2
rs587780100	NBN	1.000	0.040	8	89971174	frameshift variant	TTTG/-	delins	2.0E-05	2.1E-05	2
rs1554569106	NBN	1.000	0.040	8	89982804	frameshift variant	TTTCCTT/-	delins			2
rs786202800	C11orf65 ; ATM	1.000	0.200	11	108343338	frameshift variant	TTTCAGTGCC/-	delins			2
rs1555374817	DICER1			14	95124611	frameshift variant	TTTATCTGCACACC/-	delins			1
rs1114167807	MSH2			2	47412476	frameshift variant	TTTATCA/-	delins			1
rs80357609	BRCA1	0.851	0.200	17	43091827	frameshift variant	TTTAC/-	delins			5
rs80359496	BRCA2	0.925	0.200	13	32339572	frameshift variant	TTTAAGT/-	del	2.4E-05; 4.0E-06		3
rs483353110	BRCA2	0.925	0.200	13	32333146	frameshift variant	TTTA/ATT;NNN	delins			3
rs80359494	BRCA2	0.925	0.200	13	32339569	frameshift variant	TTTA/-	delins			3
rs1131691148	ATM			11	108267274	frameshift variant	TTTA/-	delins			1
rs483353077	BRCA2	1.000		13	32370470	frameshift variant	TTT/AAAA;NNNN	delins			3
rs267608159	PMS2	1.000	0.160	7	5987526	frameshift variant	TTT/-;TTTT;TTTTTT	delins			3
rs1555602141	RAD51C	0.925	0.200	17	58720795	frameshift variant	TTGTTCCTGC/-	delins			3
rs80357864	BRCA1	0.925	0.200	17	43091597	frameshift variant	TTGT/-;TTGTTTGT	delins			3