DisGeNET - a database of gene-disease associations

List of shared variants

Breast Cancer, Familial, C0346153

Disease: Colorectal Carcinoma

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
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	19
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs63750258	FBXO11 ; MSH6	0.851	0.200	2	47800966	stop gained	G/A;C;T	snv			5
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs147120792	ARL11	0.851	0.200	13	49630839	missense variant	C/A;T	snv	3.0E-02		6
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs203462	AKAP10	0.807	0.200	17	19909228	missense variant	T/C	snv	0.37	0.43	7
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs6964587	AKAP9	0.851	0.120	7	92001306	missense variant	G/T	snv	0.38	0.42	4
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs796096871	AKAP10	0.807	0.200	17	19909228	missense variant	TG/CA	mnv			6
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213