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
rs775092033	PGR ; PGR-AS1	0.925	0.080	11	101127471	missense variant	G/C	snv			2
rs11571149	PGR ; PGR-AS1	0.925	0.080	11	101127937	missense variant	G/T	snv			2
rs3740753	PGR-AS1 ; PGR	0.925	0.080	11	101128040	missense variant	C/G	snv	0.13	0.12	2
rs1408080623	PGR ; PGR-AS1	0.851	0.080	11	101128058	missense variant	G/A	snv			5
rs776880789	PGR ; PGR-AS1	0.925	0.080	11	101128241	missense variant	G/C;T	snv	4.7E-06; 4.7E-06		4
rs761872690	PGR ; PGR-AS1	0.925	0.080	11	101128246	synonymous variant	G/A	snv	2.8E-05		3
rs750042441	PGR ; PGR-AS1	0.827	0.160	11	101128367	missense variant	G/A;C	snv	6.1E-05; 4.3E-06		5
rs1312187959	PGR ; PGR-AS1	0.925	0.080	11	101128554	missense variant	C/T	snv	1.4E-05	7.0E-06	2
rs376101426	PGR-AS1 ; PGR	0.925	0.080	11	101128556	missense variant	A/G	snv	1.4E-05	2.8E-05	2
rs772873062	PGR-AS1 ; PGR	0.925	0.080	11	101128998	missense variant	A/G	snv	4.8E-06		2
rs757679709	PGR-AS1 ; PGR	0.925	0.080	11	101129045	missense variant	G/A;C	snv	3.0E-05		2
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs518162	PGR ; PGR-AS1	0.925	0.080	11	101129770	5 prime UTR variant	A/G	snv		0.86	2
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs9874	SELENOS	0.925	0.080	15	101271199	3 prime UTR variant	T/C	snv		0.23	2
rs2850328	PPP3CA ; FLJ20021	0.925	0.080	4	101347783	non coding transcript exon variant	T/C;G	snv			2
rs61697963	SENP7	0.925	0.080	3	101458800	intron variant	A/C;G	snv			2
rs514192	LOC107986961	1.000	0.080	8	101466731	intron variant	A/G;T	snv			1
rs16405	BTRC	0.882	0.120	10	101553963	3 prime UTR variant	AACAGTGGA/-	del		0.31	4
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs3730477	DPCD ; POLL	0.925	0.080	10	101580299	missense variant	G/A	snv	0.17	0.16	4
rs16999593	DNMT1	0.742	0.240	19	10180505	missense variant	T/C	snv	2.4E-02	9.6E-03	14
rs71559437	CUX1	1.000	0.080	7	101909160	intron variant	G/A	snv		8.5E-02	1
rs10490571	IL1R1	0.827	0.320	2	102100877	intron variant	C/T	snv		0.29	5
rs1820453	YAP1	0.925	0.080	11	102109604	non coding transcript exon variant	C/A	snv		0.54	2