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rs397507229

From SNPedia

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


Make rs397507229(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076585
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507229
dbSNP (classic)rs397507229
ClinGenrs397507229
ebirs397507229
HLIrs397507229
Exacrs397507229
Gnomadrs397507229
Varsomers397507229
LitVarrs397507229
Maprs397507229
PheGenIrs397507229
Biobankrs397507229
1000 genomesrs397507229
hgdprs397507229
ensemblrs397507229
geneviewrs397507229
scholarrs397507229
googlers397507229
pharmgkbrs397507229
gwascentralrs397507229
openSNPrs397507229
23andMers397507229
SNPshotrs397507229
SNPdbers397507229
MSV3drs397507229
GWAS Ctlgrs397507229
Max Magnitude6
ClinVar
Risk rs397507229(-;-)
Alt rs397507229(-;-)
Reference Rs397507229(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41228602delA
CLNSRC ClinVar
CLNACC RCV000031167.4,