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rs397509057

From SNPedia

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


Make rs397509057(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092195
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509057
dbSNP (classic)rs397509057
ClinGenrs397509057
ebirs397509057
HLIrs397509057
Exacrs397509057
Gnomadrs397509057
Varsomers397509057
LitVarrs397509057
Maprs397509057
PheGenIrs397509057
Biobankrs397509057
1000 genomesrs397509057
hgdprs397509057
ensemblrs397509057
geneviewrs397509057
scholarrs397509057
googlers397509057
pharmgkbrs397509057
gwascentralrs397509057
openSNPrs397509057
23andMers397509057
SNPshotrs397509057
SNPdbers397509057
MSV3drs397509057
GWAS Ctlgrs397509057
Max Magnitude6
ClinVar
Risk rs397509057(-;-)
Alt rs397509057(-;-)
Reference Rs397509057(AGAA;AGAA)
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.41244212_41244215delTTCT
CLNSRC ClinVar
CLNACC RCV000048152.2, RCV000257308.2,