rs80359883

Orientation

minus

Stabilized

minus

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

Make rs80359883(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43045706

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80359883
dbSNP (classic)	rs80359883
ClinGen	rs80359883
ebi	rs80359883
HLI	rs80359883
Exac	rs80359883
Gnomad	rs80359883
Varsome	rs80359883
LitVar	rs80359883
Map	rs80359883
PheGenI	rs80359883
Biobank	rs80359883
1000 genomes	rs80359883
hgdp	rs80359883
ensembl	rs80359883
geneview	rs80359883
scholar	rs80359883
google	rs80359883
pharmgkb	rs80359883
gwascentral	rs80359883
openSNP	rs80359883
23andMe	rs80359883
SNPshot	rs80359883
SNPdbe	rs80359883
MSV3d	rs80359883
GWAS Ctlg	rs80359883

Max Magnitude

6

BRCA1, c.5503_5564del62 (p.Arg1835Thrfs)

ClinVar
Risk	rs80359883(-;-)
Alt	rs80359883(-;-)
Reference	Rs80359883(CGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGAT;CGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGAT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41197723_41197784del62
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049021.2, RCV000112684.3,