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rs397507237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACATA;ACATA) 0 common in clinvar
(ACATA;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507237(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071135
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507237
dbSNP (classic)rs397507237
ClinGenrs397507237
ebirs397507237
HLIrs397507237
Exacrs397507237
Gnomadrs397507237
Varsomers397507237
LitVarrs397507237
Maprs397507237
PheGenIrs397507237
Biobankrs397507237
1000 genomesrs397507237
hgdprs397507237
ensemblrs397507237
geneviewrs397507237
scholarrs397507237
googlers397507237
pharmgkbrs397507237
gwascentralrs397507237
openSNPrs397507237
23andMers397507237
SNPshotrs397507237
SNPdbers397507237
MSV3drs397507237
GWAS Ctlgrs397507237
Max Magnitude6
ClinVar
Risk rs397507237(C;C)
Alt rs397507237(C;C)
Reference Rs397507237(ACATA;ACATA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41223152_41223156delTATGTinsG
CLNSRC ClinVar
CLNACC RCV000031191.3,