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
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs1042031	APOB	0.790	0.200	2	21002881	stop gained	C/A;T	snv	8.0E-06; 0.15		11
rs10420922	BABAM1 ; USHBP1	1.000	0.080	19	17271696	intron variant	A/T	snv	0.42	0.50	1
rs10421287	NR2F6	1.000	0.080	19	17242152	intron variant	C/T	snv		0.11	1
rs10423120	DDA1	1.000	0.080	19	17311227	intron variant	A/G	snv		0.17	1
rs10424178	BABAM1 ; USHBP1	1.000	0.080	19	17268749	splice region variant	C/T	snv	0.17	0.23	1
rs10424198	MRPL34 ; ABHD8	1.000	0.080	19	17298862	intron variant	C/G;T	snv			1
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs10425939	ANKLE1	1.000	0.080	19	17286435	missense variant	C/T	snv	0.15	0.16	1
rs1042638	TPD52	0.925	0.080	8	80037711	3 prime UTR variant	G/A;T	snv			2
rs10426697	BABAM1 ; USHBP1	1.000	0.080	19	17278347	intron variant	C/T	snv		0.19	1
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
rs1042839	PGR	0.925	0.080	11	101051471	synonymous variant	G/A	snv	0.13	0.11	2
rs1043210477	GPX1	0.701	0.520	3	49358250	missense variant	G/A	snv			19
rs10439478	ACYP2	0.925	0.080	2	54232313	intron variant	A/C;G;T	snv			2
rs1044129	AVEN ; RYR3	0.790	0.200	15	33866065	3 prime UTR variant	A/G;T	snv			9
rs1044484322	CASP8	0.925	0.080	2	201271565	missense variant	T/A;G	snv	4.0E-06		2
rs1045012	ARPC1B	0.925	0.080	7	99386731	missense variant	G/C	snv	5.6E-02	7.8E-02	2
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs1045494	CASP8	0.882	0.120	2	201287058	3 prime UTR variant	T/C	snv		0.10	3
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214