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rs397509212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509212(A;G)
Make rs397509212(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067697
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509212
dbSNP (classic)rs397509212
ClinGenrs397509212
ebirs397509212
HLIrs397509212
Exacrs397509212
Gnomadrs397509212
Varsomers397509212
LitVarrs397509212
Maprs397509212
PheGenIrs397509212
Biobankrs397509212
1000 genomesrs397509212
hgdprs397509212
ensemblrs397509212
geneviewrs397509212
scholarrs397509212
googlers397509212
pharmgkbrs397509212
gwascentralrs397509212
openSNPrs397509212
23andMers397509212
SNPshotrs397509212
SNPdbers397509212
MSV3drs397509212
GWAS Ctlgrs397509212
Max Magnitude6
ClinVar
Risk rs397509212(C;C) rs397509212(G;G)
Alt rs397509212(C;C) rs397509212(G;G)
Reference Rs397509212(A;A)
Significance Pathogenic
Disease Familial cancer of breast not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast not provided Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41219714T>C; NC_000017.10:g.41219714T>G
CLNSRC ClinVar
CLNACC RCV000048726.4, RCV000212189.1, RCV000258325.1, RCV000226415.1,