DisGeNET - a database of gene-disease associations

List of associated variants

Breast Carcinoma, C0678222

Source: CURATED ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		73
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		48
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		35
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	31
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	25
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	25
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			25
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	21
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	21
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		21
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			20
rs115707823		0.701	0.320	6	30374976	intergenic variant	G/A	snv			19
rs7931342		0.689	0.360	11	69227030	intergenic variant	T/G	snv		0.58	19
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv			19
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		19
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			19
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	19
rs4808075	BABAM1 ; USHBP1	0.701	0.280	19	17279482	intron variant	T/C	snv		0.26	18