DisGeNET - a database of gene-disease associations

List of associated variants

Breast Cancer, Familial, C0346153

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 EXOME	AF GENOME	Num. diseases
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		17
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			16
rs2420946	FGFR2	0.851	0.160	10	121591810	intron variant	T/C	snv		0.56	4
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	3
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	187
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	6
rs371077728	MRE11 ; MIR548L	0.827	0.320	11	94467821	stop gained	G/A;C;T	snv	5.2E-05; 4.0E-06; 7.2E-05		3
rs751942421	RASSF7 ; LMNTD2	1.000	0.080	11	562702	missense variant	C/T	snv	1.4E-05	7.0E-06	1
rs756522395	ATM	1.000	0.080	11	108257484	missense variant	C/G;T	snv			1
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	31
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs147120792	ARL11	0.851	0.200	13	49630839	missense variant	C/A;T	snv	3.0E-02		6
rs41293475	BRCA2	0.882	0.080	13	32332629	missense variant	C/G;T	snv	7.6E-04		3
rs80358505	BRCA2	1.000	0.080	13	32319249	missense variant	A/G;T	snv			1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	103
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03		6
rs121917739	RAD51	0.882	0.080	15	40718818	missense variant	G/A	snv	3.7E-04	1.7E-03	4
rs770140945	CYP1A1	0.882	0.200	15	74720665	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs34434221	AKAP13	0.882	0.080	15	85579644	missense variant	A/C	snv	2.2E-02	2.2E-02	3
rs2241268	AKAP13	1.000	0.080	15	85735078	missense variant	G/A	snv	0.22	0.19	1
rs4843075	AKAP13	1.000	0.080	15	85581324	missense variant	G/A;C	snv	0.61; 4.0E-06		1
rs56343424	CYP1A1	1.000	0.080	15	74720496	missense variant	C/A;T	snv	2.1E-03; 3.3E-05		1