DisGeNET - a database of gene-disease associations

List of shared variants

Diastolic blood pressure, C0428883

Disease: Breast Carcinoma

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs217727	MRPL23 ; HOTS ; H19	0.641	0.480	11	1995678	non coding transcript exon variant	G/A	snv	0.20		34
rs4245739	MDM4	0.708	0.360	1	204549714	3 prime UTR variant	C/A;G	snv	0.77; 6.2E-06		21
rs3741378	SIPA1	0.851	0.080	11	65641466	missense variant	C/G;T	snv	0.15		8
rs569550	LSP1	0.925	0.080	11	1865838	intron variant	T/G	snv		0.35	6
rs592373	LSP1	0.925	0.080	11	1869760	intron variant	G/A;T	snv	0.63; 6.8E-06		5
rs9306160	RRP1B	0.925	0.080	21	43687681	missense variant	T/C	snv	0.69	0.73	5