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rs397508955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common/normal
(-;AGAGAGTAGCAGTATTTCA) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar
Make rs397508955(AGAGAGTAGCAGTATTTCA;AGAGAGTAGCAGTATTTCA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093220
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508955
ClinGenrs397508955
ebirs397508955
HLIrs397508955
Exacrs397508955
Varsomers397508955
Maprs397508955
PheGenIrs397508955
hapmaprs397508955
1000 genomesrs397508955
hgdprs397508955
ensemblrs397508955
gopubmedrs397508955
geneviewrs397508955
scholarrs397508955
googlers397508955
pharmgkbrs397508955
gwascentralrs397508955
openSNPrs397508955
23andMers397508955
23andMe allrs397508955
SNP Nexus

SNPshotrs397508955
SNPdbers397508955
MSV3drs397508955
GWAS Ctlgrs397508955
Max Magnitude6
ClinVar
Risk rs397508955(AGAGAGTAGCAGTATTTCA;AGAGAGTAGCAGTATTTCA) rs397508955(C;C)
Alt rs397508955(AGAGAGTAGCAGTATTTCA;AGAGAGTAGCAGTATTTCA) rs397508955(C;C)
Reference Rs397508955(-;-)
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.41245237_41245238insG; NC_000017.10:g.41245238_41245256dup19
CLNSRC ClinVar
CLNACC RCV000047795.2, RCV000047784.2, RCV000257197.2,