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rs397509277

From SNPedia

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


Make rs397509277(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049118
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509277
dbSNP (classic)rs397509277
ClinGenrs397509277
ebirs397509277
HLIrs397509277
Exacrs397509277
Gnomadrs397509277
Varsomers397509277
LitVarrs397509277
Maprs397509277
PheGenIrs397509277
Biobankrs397509277
1000 genomesrs397509277
hgdprs397509277
ensemblrs397509277
geneviewrs397509277
scholarrs397509277
googlers397509277
pharmgkbrs397509277
gwascentralrs397509277
openSNPrs397509277
23andMers397509277
SNPshotrs397509277
SNPdbers397509277
MSV3drs397509277
GWAS Ctlgrs397509277
Max Magnitude6

aka c.5406+1_5406+3delGTA

ClinVar
Risk rs397509277(-;-)
Alt rs397509277(-;-)
Reference Rs397509277(GTA;GTA)
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.41201135_41201137delTAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048973.2, RCV000112633.1,