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rs397508939

From SNPedia

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


Make rs397508939(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093404
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508939
ClinGenrs397508939
ebirs397508939
HLIrs397508939
Exacrs397508939
Varsomers397508939
Maprs397508939
PheGenIrs397508939
hapmaprs397508939
1000 genomesrs397508939
hgdprs397508939
ensemblrs397508939
gopubmedrs397508939
geneviewrs397508939
scholarrs397508939
googlers397508939
pharmgkbrs397508939
gwascentralrs397508939
openSNPrs397508939
23andMers397508939
23andMe allrs397508939
SNP Nexus

SNPshotrs397508939
SNPdbers397508939
MSV3drs397508939
GWAS Ctlgrs397508939
Max Magnitude6

BRCA1, c.2126_2127delTT (p.Phe709Tyrfs)

ClinVar
Risk rs397508939(-;-)
Alt rs397508939(-;-)
Reference Rs397508939(TT;TT)
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.41245421_41245422delAA
CLNSRC ClinVar
CLNACC RCV000047723.2, RCV000213266.1, RCV000257418.2,