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rs397509132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs397509132(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091479
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509132
dbSNP (classic)rs397509132
ClinGenrs397509132
ebirs397509132
HLIrs397509132
Exacrs397509132
Gnomadrs397509132
Varsomers397509132
LitVarrs397509132
Maprs397509132
PheGenIrs397509132
Biobankrs397509132
1000 genomesrs397509132
hgdprs397509132
ensemblrs397509132
geneviewrs397509132
scholarrs397509132
googlers397509132
pharmgkbrs397509132
gwascentralrs397509132
openSNPrs397509132
23andMers397509132
SNPshotrs397509132
SNPdbers397509132
MSV3drs397509132
GWAS Ctlgrs397509132
Max Magnitude6
ClinVar
Risk rs397509132(A;A)
Alt rs397509132(A;A)
Reference Rs397509132(T;T)
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.41243496A>T
CLNSRC ClinVar
CLNACC RCV000048424.2, RCV000083204.4,