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rs397509142

From SNPedia

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


Make rs397509142(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090967
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509142
dbSNP (classic)rs397509142
ClinGenrs397509142
ebirs397509142
HLIrs397509142
Exacrs397509142
Gnomadrs397509142
Varsomers397509142
LitVarrs397509142
Maprs397509142
PheGenIrs397509142
Biobankrs397509142
1000 genomesrs397509142
hgdprs397509142
ensemblrs397509142
geneviewrs397509142
scholarrs397509142
googlers397509142
pharmgkbrs397509142
gwascentralrs397509142
openSNPrs397509142
23andMers397509142
SNPshotrs397509142
SNPdbers397509142
MSV3drs397509142
GWAS Ctlgrs397509142
Max Magnitude6
ClinVar
Risk rs397509142(-;-)
Alt rs397509142(-;-)
Reference Rs397509142(CTCTC;CTCTC)
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.41242984_41242988delGAGAG
CLNSRC ClinVar
CLNACC RCV000048459.2, RCV000257144.2,