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rs80356929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar
Make rs80356929(A;A)
Make rs80356929(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124044
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80356929
dbSNP (classic)rs80356929
ClinGenrs80356929
ebirs80356929
HLIrs80356929
Exacrs80356929
Gnomadrs80356929
Varsomers80356929
LitVarrs80356929
Maprs80356929
PheGenIrs80356929
Biobankrs80356929
1000 genomesrs80356929
hgdprs80356929
ensemblrs80356929
geneviewrs80356929
scholarrs80356929
googlers80356929
pharmgkbrs80356929
gwascentralrs80356929
openSNPrs80356929
23andMers80356929
SNPshotrs80356929
SNPdbers80356929
MSV3drs80356929
GWAS Ctlgrs80356929
Max Magnitude6
ClinVar
Risk rs80356929(A;A) rs80356929(C;C)
Alt rs80356929(A;A) rs80356929(C;C)
Reference Rs80356929(T;T)
Significance Other
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41276061A>G; NC_000017.10:g.41276061A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000031245.5, RCV000048972.4, RCV000131693.3, RCV000212154.1, RCV000048971.2, RCV000111654.1,