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
rs7581886	NPAS2	0.708	0.320	2	100964784	intron variant	C/T	snv		0.92	18
rs13281615	CASC8 ; POU5F1B ; PCAT1 ; CASC21	0.716	0.360	8	127343372	intron variant	A/G	snv		0.43	17
rs1412125	HMGB1	0.724	0.360	13	30467458	intron variant	C/G;T	snv			17
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv			17
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs3850641	TNFSF4	0.716	0.400	1	173206693	intron variant	A/G	snv		0.14	17
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			16
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs17251221	CASR	0.724	0.360	3	122274400	intron variant	A/G	snv		0.11	16
rs2107425	MRPL23 ; H19	0.732	0.280	11	1999845	intron variant	C/T	snv			16
rs2232365	FOXP3	0.716	0.480	X	49259429	intron variant	T/C	snv			16
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs8175347	UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4	0.708	0.400	2	233760234	intron variant	TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA	delins			16
rs184003	AGER	0.724	0.400	6	32182519	intron variant	C/A	snv	0.12	0.12	15
rs2285053	MMP2	0.752	0.320	16	55478465	intron variant	C/T	snv		0.12	15
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs4810485	CD40	0.732	0.480	20	46119308	intron variant	T/A;G	snv			15
rs1333048	CDKN2B-AS1	0.683	0.320	9	22125348	intron variant	A/C	snv		0.44	14
rs2072668	OGG1	0.732	0.280	3	9756456	intron variant	C/G	snv	0.28	0.24	14
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
rs3730358	AKT1	0.724	0.360	14	104780070	intron variant	G/A;C	snv	0.16; 4.0E-03		14
rs4636297	EGFL7 ; MIR126	0.724	0.360	9	136670698	intron variant	A/G	snv	0.67	0.65	14
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv		0.69	14
rs1682111	ACYP2	0.742	0.240	2	54200842	intron variant	A/T	snv		0.56	13
rs2075686	TMEM167A ; XRCC4	0.742	0.240	5	83076927	intron variant	C/T	snv		1.7E-02	13