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
rs373540612	ABCA4	1.000	0.080	1	94098891	missense variant	G/A	snv	5.2E-05	2.8E-05	1
rs3888565	ABCC1	1.000	0.080	16	16089188	intron variant	G/A	snv		0.25	1
rs4148353	ABCC1	1.000	0.080	16	16077291	intron variant	G/A;T	snv			1
rs11540855	ABHD8	1.000	0.080	19	17292552	3 prime UTR variant	A/G;T	snv			1
rs4808616	ABHD8	1.000	0.080	19	17292224	3 prime UTR variant	C/A	snv		0.25	1
rs12982058	ABHD8 ; MRPL34	1.000	0.080	19	17298571	intron variant	C/T	snv		0.47	1
rs34546260	ABHD8 ; MRPL34	1.000	0.080	19	17296788	intron variant	G/A;C	snv			1
rs774304253	ABI2 ; RAPH1	1.000	0.080	2	203439508	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		1
rs201627097	ABRAXAS1 ; MRPS18C	1.000	0.080	4	83462617	missense variant	C/T	snv	1.2E-04	7.7E-05	1
rs759855054	ACAP1	1.000	0.080	17	7342471	missense variant	A/G	snv	2.4E-05		1
rs35514614	ACCS	1.000	0.080	11	44077852	missense variant	G/A	snv	3.5E-03	6.3E-03	1
rs1459457663	ADAM12	1.000	0.080	10	126064988	missense variant	C/T	snv			1
rs758814202	ADAM12	1.000	0.080	10	126066725	missense variant	C/G	snv	4.0E-06		1
rs144119808	ADAR	1.000	0.080	1	154590263	missense variant	T/A	snv	4.0E-06		1
rs572583506	ADGRF4	1.000	0.080	6	47717338	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs756245027	AKAP9	1.000	0.080	7	92096848	missense variant	G/C	snv	4.0E-06		1
rs1289962028	ANAPC2 ; SSNA1	1.000	0.080	9	137188777	missense variant	G/C	snv		7.0E-06	1
rs10425939	ANKLE1	1.000	0.080	19	17286435	missense variant	C/T	snv	0.15	0.16	1
rs1465581	ANKLE1	1.000	0.080	19	17286672	missense variant	G/T	snv		0.31	1
rs4808076	ANKLE1	1.000	0.080	19	17284592	intron variant	C/T	snv		0.26	1
rs66753001	ANKLE1	1.000	0.080	19	17284030	intron variant	A/G	snv		0.17	1
rs748850	ANKLE1	1.000	0.080	19	17286133	intron variant	C/T	snv		0.50	1
rs10419397	ANKLE1 ; BABAM1 ; USHBP1	1.000	0.080	19	17280519	intron variant	G/A;T	snv			1
rs73509996	ANKLE1 ; USHBP1	1.000	0.080	19	17282640	5 prime UTR variant	T/G	snv	0.14	0.17	1
rs767831283	ANKRD29	1.000	0.080	18	23638896	missense variant	C/T	snv	2.8E-05	1.4E-05	1