DisGeNET - a database of gene-disease associations

List of associated variants

Breast Carcinoma, C0678222

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
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
rs10462028	TMEM165 ; CLOCK	0.882	0.120	4	55432133	3 prime UTR variant	G/A	snv		0.28	4
rs10463297	SRA1	0.925	0.080	5	140556654	intron variant	T/C	snv		0.29	2
rs1046428	GSTZ1	0.776	0.200	14	77327940	missense variant	T/A;C	snv	4.0E-06; 0.81		8
rs10472076		0.925	0.080	5	58888234	regulatory region variant	T/A;C	snv			2
rs10474352	ARRDC3-AS1	0.925	0.080	5	91436408	intron variant	C/T	snv		0.23	2
rs10477313	PPP2R2B	0.925	0.080	5	146854076	intron variant	C/T	snv		0.17	2
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs1047769	ERCC5 ; BIVM-ERCC5	0.925	0.080	13	102861594	missense variant	A/G	snv	3.0E-02	2.5E-02	2
rs1047840	EXO1	0.708	0.280	1	241878999	missense variant	G/A	snv	0.36	0.40	19
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs1048108	SNHG31 ; BARD1	0.827	0.120	2	214809500	missense variant	G/A	snv	0.38	0.33	5
rs1048249612	CHEK1	0.925	0.080	11	125629291	missense variant	G/A	snv			2
rs10483028	RUNX1	0.925	0.080	21	35301275	intron variant	C/T	snv		0.18	2