rs80358345

Orientation

minus

Stabilized

minus

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

Make rs80358345(-;-)

Make rs80358345(-;GCT)

Make rs80358345(GCT;GCT)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43063947

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358345
dbSNP (classic)	rs80358345
ClinGen	rs80358345
ebi	rs80358345
HLI	rs80358345
Exac	rs80358345
Gnomad	rs80358345
Varsome	rs80358345
LitVar	rs80358345
Map	rs80358345
PheGenI	rs80358345
Biobank	rs80358345
1000 genomes	rs80358345
hgdp	rs80358345
ensembl	rs80358345
geneview	rs80358345
scholar	rs80358345
google	rs80358345
pharmgkb	rs80358345
gwascentral	rs80358345
openSNP	rs80358345
23andMe	rs80358345
SNPshot	rs80358345
SNPdbe	rs80358345
MSV3d	rs80358345
GWAS Ctlg	rs80358345

Merged from

Rs397509225

Max Magnitude

6

BRCA1, c.5078_5080delCTG (p.Ala1693del)

ClinVar
Risk	Rs80358345(CTG;CTG) rs80358345(-;-)
Alt	Rs80358345(CTG;CTG) rs80358345(-;-)
Reference	rs80358345(GCT;GCT)
Significance	Other
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41215963_41215965delCAG
CLNSRC
CLNACC	RCV000048779.2, RCV000083215.3, RCV000166817.1, RCV000237025.1,