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rs397509184

From SNPedia

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


Make rs397509184(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074421
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509184
dbSNP (classic)rs397509184
ClinGenrs397509184
ebirs397509184
HLIrs397509184
Exacrs397509184
Gnomadrs397509184
Varsomers397509184
LitVarrs397509184
Maprs397509184
PheGenIrs397509184
Biobankrs397509184
1000 genomesrs397509184
hgdprs397509184
ensemblrs397509184
geneviewrs397509184
scholarrs397509184
googlers397509184
pharmgkbrs397509184
gwascentralrs397509184
openSNPrs397509184
23andMers397509184
SNPshotrs397509184
SNPdbers397509184
MSV3drs397509184
GWAS Ctlgrs397509184
Max Magnitude6
ClinVar
Risk rs397509184(-;-)
Alt rs397509184(-;-)
Reference Rs397509184(AGAGGAGCTCA;AGAGGAGCTCA)
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.41226438_41226448delTGAGCTCCTCT
CLNSRC ClinVar
CLNACC RCV000048596.2, RCV000241506.2,