rs397509217

minus

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

Make rs397509217(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067654

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509217
dbSNP (classic)	rs397509217
ClinGen	rs397509217
ebi	rs397509217
HLI	rs397509217
Exac	rs397509217
Gnomad	rs397509217
Varsome	rs397509217
LitVar	rs397509217
Map	rs397509217
PheGenI	rs397509217
Biobank	rs397509217
1000 genomes	rs397509217
hgdp	rs397509217
ensembl	rs397509217
geneview	rs397509217
scholar	rs397509217
google	rs397509217
pharmgkb	rs397509217
gwascentral	rs397509217
openSNP	rs397509217
23andMe	rs397509217
SNPshot	rs397509217
SNPdbe	rs397509217
MSV3d	rs397509217
GWAS Ctlg	rs397509217

Max Magnitude

6

rs397509217 represents three variants in the BRCA1 gene, all of which are considered pathogenic for breast cancer in ClinVar. These include c.5027delT, c.5026_5027delTT, and c.5027dupT.

ClinVar
Risk	rs397509217(T;T)
Alt	rs397509217(T;T)
Reference	Rs397509217(-;-)
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.41219672dupA
CLNSRC	ClinVar
CLNACC	RCV000048740.2, RCV000241011.1,