rs587782143

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs587782143(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43074350

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs587782143
dbSNP (classic)	rs587782143
ClinGen	rs587782143
ebi	rs587782143
HLI	rs587782143
Exac	rs587782143
Gnomad	rs587782143
Varsome	rs587782143
LitVar	rs587782143
Map	rs587782143
PheGenI	rs587782143
Biobank	rs587782143
1000 genomes	rs587782143
hgdp	rs587782143
ensembl	rs587782143
geneview	rs587782143
scholar	rs587782143
google	rs587782143
pharmgkb	rs587782143
gwascentral	rs587782143
openSNP	rs587782143
23andMe	rs587782143
SNPshot	rs587782143
SNPdbe	rs587782143
MSV3d	rs587782143
GWAS Ctlg	rs587782143

Max Magnitude

6

BRCA1 mutation, c.4655dupA (p.Tyr1552Terfs)

ClinVar
Risk	rs587782143(A;A)
Alt	rs587782143(A;A)
Reference	Rs587782143(-;-)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41226368dupT
CLNSRC
CLNACC	RCV000130701.3, RCV000241450.1,