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rs397508987

From SNPedia

Merged intors80357912
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508987(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092913
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508987
dbSNP (classic)rs397508987
ClinGenrs397508987
ebirs397508987
HLIrs397508987
Exacrs397508987
Gnomadrs397508987
Varsomers397508987
LitVarrs397508987
Maprs397508987
PheGenIrs397508987
Biobankrs397508987
1000 genomesrs397508987
hgdprs397508987
ensemblrs397508987
geneviewrs397508987
scholarrs397508987
googlers397508987
pharmgkbrs397508987
gwascentralrs397508987
openSNPrs397508987
23andMers397508987
SNPshotrs397508987
SNPdbers397508987
MSV3drs397508987
GWAS Ctlgrs397508987
StatusMerged into rs80357912
Max Magnitude6
ClinVar
Risk rs397508987(T;T)
Alt rs397508987(T;T)
Reference Rs397508987(;)
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.41244932dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047903.2, RCV000111905.3,