DisGeNET - a database of gene-disease associations

List of associated variants

Breast Carcinoma, C0678222

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
rs1222174664	SLCO6A1	0.827	0.280	5	102477801	missense variant	G/A	snv	8.0E-06	7.0E-06	5
rs7965399	LOC105369944	0.851	0.120	12	102497908	regulatory region variant	T/A;C	snv			5
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs3774937	NFKB1	0.776	0.280	4	102513096	intron variant	T/C	snv		0.26	4
rs35765817	LOC105369944	0.925	0.080	12	102556536	intergenic variant	C/T	snv		6.6E-02	2
rs35455143	LOC105369944	0.925	0.080	12	102556815	intergenic variant	C/T	snv		3.7E-02	2
rs1598859	NFKB1	0.925	0.080	4	102585287	intron variant	T/C	snv		0.34	4
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4
rs703556	LOC105369944	0.925	0.080	12	102618116	intergenic variant	A/G	snv		2.8E-02	2
rs35866072	MMP8	0.716	0.360	11	102713373	missense variant	T/G	snv	6.0E-02	9.8E-02	17
rs34009635	MMP8	0.716	0.360	11	102713445	missense variant	A/G	snv	2.5E-03	6.2E-04	17
rs750521832	MMP8	0.732	0.200	11	102718452	missense variant	A/G	snv	4.0E-06		14
rs11225394	MMP8	0.925	0.080	11	102724682	intron variant	C/T	snv		0.18	2
rs11225395	MMP8	0.776	0.360	11	102725749	intron variant	A/C;G	snv			11
rs4919682	WBP1L	0.925	0.080	10	102824573	intron variant	C/G;T	snv		0.24	2
rs4919687	CYP17A1	0.742	0.160	10	102835491	non coding transcript exon variant	G/A	snv		0.25	6
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs2486758	CYP17A1	0.742	0.160	10	102837723	upstream gene variant	T/C	snv		0.18	11
rs2094258	ERCC5 ; BIVM-ERCC5	0.701	0.280	13	102844409	intron variant	C/T	snv		0.18	20
rs171407	LINC00852 ; GHRLOS	0.925	0.080	3	10284485	non coding transcript exon variant	G/A;C	snv			2
rs1323697	ERCC5 ; BIVM-ERCC5	0.925	0.080	13	102845499	intron variant	G/C	snv		0.25	2
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	97
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20