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rs80358010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs80358010(C;C)
Make rs80358010(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124016
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80358010
dbSNP (classic)rs80358010
ClinGenrs80358010
ebirs80358010
HLIrs80358010
Exacrs80358010
Gnomadrs80358010
Varsomers80358010
LitVarrs80358010
Maprs80358010
PheGenIrs80358010
Biobankrs80358010
1000 genomesrs80358010
hgdprs80358010
ensemblrs80358010
geneviewrs80358010
scholarrs80358010
googlers80358010
pharmgkbrs80358010
gwascentralrs80358010
openSNPrs80358010
23andMers80358010
SNPshotrs80358010
SNPdbers80358010
MSV3drs80358010
GWAS Ctlgrs80358010
Max Magnitude6
ClinVar
Risk rs80358010(A;A) rs80358010(C;C) rs80358010(T;T)
Alt rs80358010(A;A) rs80358010(C;C) rs80358010(T;T)
Reference Rs80358010(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41276033C>A; NC_000017.10:g.41276033C>G; NC_000017.10:g.41276033C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111706.1, RCV000111705.1, RCV000049143.2, RCV000111704.1,