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rs397508923

From SNPedia

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


Make rs397508923(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093570
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508923
dbSNP (classic)rs397508923
ClinGenrs397508923
ebirs397508923
HLIrs397508923
Exacrs397508923
Gnomadrs397508923
Varsomers397508923
LitVarrs397508923
Maprs397508923
PheGenIrs397508923
Biobankrs397508923
1000 genomesrs397508923
hgdprs397508923
ensemblrs397508923
geneviewrs397508923
scholarrs397508923
googlers397508923
pharmgkbrs397508923
gwascentralrs397508923
openSNPrs397508923
23andMers397508923
SNPshotrs397508923
SNPdbers397508923
MSV3drs397508923
GWAS Ctlgrs397508923
Max Magnitude6
ClinVar
Risk rs397508923(-;-)
Alt rs397508923(-;-)
Reference Rs397508923(AAAA;AAAA)
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.41245587_41245590delTTTT
CLNSRC ClinVar
CLNACC RCV000047655.2, RCV000241056.2,