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rs397508980

From SNPedia

Merged intors80357835
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508980(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092972
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508980
dbSNP (classic)rs397508980
ClinGenrs397508980
ebirs397508980
HLIrs397508980
Exacrs397508980
Gnomadrs397508980
Varsomers397508980
LitVarrs397508980
Maprs397508980
PheGenIrs397508980
Biobankrs397508980
1000 genomesrs397508980
hgdprs397508980
ensemblrs397508980
geneviewrs397508980
scholarrs397508980
googlers397508980
pharmgkbrs397508980
gwascentralrs397508980
openSNPrs397508980
23andMers397508980
SNPshotrs397508980
SNPdbers397508980
MSV3drs397508980
GWAS Ctlgrs397508980
StatusMerged into rs80357835
Max Magnitude6
ClinVar
Risk rs397508980(A;A)
Alt rs397508980(A;A)
Reference Rs397508980(;)
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.41244990dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047876.2, RCV000111888.3,