rs397509245

Orientation

minus

Stabilized

minus

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

Make rs397509245(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057071

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509245
dbSNP (classic)	rs397509245
ClinGen	rs397509245
ebi	rs397509245
HLI	rs397509245
Exac	rs397509245
Gnomad	rs397509245
Varsome	rs397509245
LitVar	rs397509245
Map	rs397509245
PheGenI	rs397509245
Biobank	rs397509245
1000 genomes	rs397509245
hgdp	rs397509245
ensembl	rs397509245
geneview	rs397509245
scholar	rs397509245
google	rs397509245
pharmgkb	rs397509245
gwascentral	rs397509245
openSNP	rs397509245
23andMe	rs397509245
SNPshot	rs397509245
SNPdbe	rs397509245
MSV3d	rs397509245
GWAS Ctlg	rs397509245

Max Magnitude

6

aka c.5116dupA

ClinVar
Risk	rs397509245(A;A)
Alt	rs397509245(A;A)
Reference	Rs397509245(-;-)
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.41209089dupT
CLNSRC	ClinVar
CLNACC	RCV000048888.2, RCV000256914.2,