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rs397507209

From SNPedia

Merged intors273899699
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507209(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092422
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507209
dbSNP (classic)rs397507209
ClinGenrs397507209
ebirs397507209
HLIrs397507209
Exacrs397507209
Gnomadrs397507209
Varsomers397507209
LitVarrs397507209
Maprs397507209
PheGenIrs397507209
Biobankrs397507209
1000 genomesrs397507209
hgdprs397507209
ensemblrs397507209
geneviewrs397507209
scholarrs397507209
googlers397507209
pharmgkbrs397507209
gwascentralrs397507209
openSNPrs397507209
23andMers397507209
SNPshotrs397507209
SNPdbers397507209
MSV3drs397507209
GWAS Ctlgrs397507209
StatusMerged into rs273899699
Max Magnitude6
ClinVar
Risk rs397507209(T;T)
Alt rs397507209(T;T)
Reference Rs397507209(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244440dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031089.6, RCV000048072.2, RCV000130035.2,