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rs397509228

From SNPedia

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


Make rs397509228(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063914
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509228
ClinGenrs397509228
ebirs397509228
HLIrs397509228
Exacrs397509228
Varsomers397509228
Maprs397509228
PheGenIrs397509228
hapmaprs397509228
1000 genomesrs397509228
hgdprs397509228
ensemblrs397509228
gopubmedrs397509228
geneviewrs397509228
scholarrs397509228
googlers397509228
pharmgkbrs397509228
gwascentralrs397509228
openSNPrs397509228
23andMers397509228
23andMe allrs397509228
SNP Nexus

SNPshotrs397509228
SNPdbers397509228
MSV3drs397509228
GWAS Ctlgrs397509228
Max Magnitude6

BRCA1, c.5112delT (p.Leu1705Terfs)

ClinVar
Risk rs397509228(-;-)
Alt rs397509228(-;-)
Reference Rs397509228(T;T)
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.41215931delA
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048798.2, RCV000129513.2, RCV000241357.1,