DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of breast, C0006142

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
rs1569171106	CHEK2	1.000	0.080	22	28734589	frameshift variant	TGCTGGTAGAGGAGCT/-	del			1
rs1569170839	CHEK2	1.000	0.080	22	28734558	frameshift variant	TGAG/-	delins			1
rs796096871	AKAP10	0.807	0.200	17	19909228	missense variant	TG/CA	mnv			6
rs1567222943	PALB2	1.000	0.080	16	23636149	frameshift variant	TG/-	del			2
rs879255317	BRCA1	0.925	0.080	17	43076599	frameshift variant	TG/-	delins			2
rs879255331	BRCA2	0.925	0.080	13	32356500	frameshift variant	TCTTTCCACAGCCA/G	delins			2
rs80359876	BRCA1	0.851	0.200	17	43070932	frameshift variant	TCTTCTGGGGTCAGGCCAG/-	del			5
rs764342874	LOC105375545 ; LOC105375546 ; GSTK1	0.882	0.240	7	143263541	frameshift variant	TCTTCTATGACGTGCTGTC/-	delins		7.0E-06	3
rs80359596	BRCA2	0.827	0.240	13	32340817	frameshift variant	TCTC/-;TC;TCTCTC	delins			6
rs587782008	CHEK2	0.925	0.200	22	28725084	inframe deletion	TCT/-	delins	1.6E-05		3
rs869312760	BRCA2	0.882	0.080	13	32370486	frameshift variant	TCGCTTTTCA/-	delins			3
rs1553622103	BARD1	1.000	0.080	2	214780590	frameshift variant	TCCT/-	del			1
rs80359671	BRCA2	0.882	0.200	13	32331004	frameshift variant	TCAAA/-	delins	8.0E-06		4
rs1057517589	BARD1	1.000	0.080	2	214797099	frameshift variant	TC/-	delins		7.0E-06	2
rs8175347	UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4	0.708	0.400	2	233760234	intron variant	TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA	delins			16
rs1553622160	BARD1	1.000	0.080	2	214780643	frameshift variant	TAGAC/-	delins			2
rs587776547	C11orf65 ; ATM	0.882	0.320	11	108331885	inframe deletion	TAGAATTTC/-	delins	2.8E-05	1.4E-05	4
rs273900730	BRCA1	0.882	0.200	17	43076579	frameshift variant	TAG/AA	delins			4
rs868257011	PTEN	0.925	0.080	10	87961042	frameshift variant	TACTT/-	del			4
rs80359375	BRCA2	0.882	0.200	13	32337547	frameshift variant	TAAT/-	delins			4
rs1555461683	PALB2	1.000	0.080	16	23635877	frameshift variant	TAAT/-	delins			1
rs1555913645	CHEK2	1.000	0.080	22	28695723	stop gained	TAACTCCTA/CTCCT	delins			2
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119