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rs397507206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
Make rs397507206(C;T)
Make rs397507206(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092568
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507206
dbSNP (classic)rs397507206
ClinGenrs397507206
ebirs397507206
HLIrs397507206
Exacrs397507206
Gnomadrs397507206
Varsomers397507206
LitVarrs397507206
Maprs397507206
PheGenIrs397507206
Biobankrs397507206
1000 genomesrs397507206
hgdprs397507206
ensemblrs397507206
geneviewrs397507206
scholarrs397507206
googlers397507206
pharmgkbrs397507206
gwascentralrs397507206
openSNPrs397507206
23andMers397507206
SNPshotrs397507206
SNPdbers397507206
MSV3drs397507206
GWAS Ctlgrs397507206
Max Magnitude6
ClinVar
Risk rs397507206(A;A) rs397507206(T;T)
Alt rs397507206(A;A) rs397507206(T;T)
Reference Rs397507206(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer not specified Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not specified Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41244585G>A; NC_000017.10:g.41244585G>T
CLNSRC ClinVar
CLNACC RCV000031075.3, RCV000159879.4, RCV000048024.2, RCV000166800.1, RCV000225640.2, RCV000487157.1,