rs397508997

Orientation

minus

Stabilized

minus

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

Make rs397508997(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092848

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508997
dbSNP (classic)	rs397508997
ClinGen	rs397508997
ebi	rs397508997
HLI	rs397508997
Exac	rs397508997
Gnomad	rs397508997
Varsome	rs397508997
LitVar	rs397508997
Map	rs397508997
PheGenI	rs397508997
Biobank	rs397508997
1000 genomes	rs397508997
hgdp	rs397508997
ensembl	rs397508997
geneview	rs397508997
scholar	rs397508997
google	rs397508997
pharmgkb	rs397508997
gwascentral	rs397508997
openSNP	rs397508997
23andMe	rs397508997
SNPshot	rs397508997
SNPdbe	rs397508997
MSV3d	rs397508997
GWAS Ctlg	rs397508997

Max Magnitude

6

ClinVar
Risk	rs397508997(T;T)
Alt	rs397508997(T;T)
Reference	Rs397508997(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244865G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000047929.2, RCV000131537.3, RCV000240966.2,