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rs397509247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509247(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057063
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509247
dbSNP (old)rs397509247
ClinGenrs397509247
ebirs397509247
HLIrs397509247
Exacrs397509247
Gnomadrs397509247
Varsomers397509247
Maprs397509247
PheGenIrs397509247
Biobankrs397509247
1000 genomesrs397509247
hgdprs397509247
ensemblrs397509247
gopubmedrs397509247
geneviewrs397509247
scholarrs397509247
googlers397509247
pharmgkbrs397509247
gwascentralrs397509247
openSNPrs397509247
23andMers397509247
23andMe allrs397509247
SNP Nexus

SNPshotrs397509247
SNPdbers397509247
MSV3drs397509247
GWAS Ctlgrs397509247
Max Magnitude6
ClinVar
Risk rs397509247(T;T)
Alt rs397509247(T;T)
Reference Rs397509247(C;C)
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.41209080G>A
CLNSRC ClinVar
CLNACC RCV000048892.2, RCV000257437.2,