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rs397507221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507221(AC;AC)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091678
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507221
dbSNP (classic)rs397507221
ClinGenrs397507221
ebirs397507221
HLIrs397507221
Exacrs397507221
Gnomadrs397507221
Varsomers397507221
LitVarrs397507221
Maprs397507221
PheGenIrs397507221
Biobankrs397507221
1000 genomesrs397507221
hgdprs397507221
ensemblrs397507221
geneviewrs397507221
scholarrs397507221
googlers397507221
pharmgkbrs397507221
gwascentralrs397507221
openSNPrs397507221
23andMers397507221
SNPshotrs397507221
SNPdbers397507221
MSV3drs397507221
GWAS Ctlgrs397507221
Max Magnitude6
ClinVar
Risk rs397507221(AC;AC)
Alt rs397507221(AC;AC)
Reference Rs397507221(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243696_41243697dupGT
CLNSRC ClinVar
CLNACC RCV000257561.3,