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rs80358048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358048(A;A)
Make rs80358048(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43045803
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358048
ebirs80358048
HLIrs80358048
Exacrs80358048
Varsomers80358048
Maprs80358048
PheGenIrs80358048
hapmaprs80358048
1000 genomesrs80358048
hgdprs80358048
ensemblrs80358048
gopubmedrs80358048
geneviewrs80358048
scholarrs80358048
googlers80358048
pharmgkbrs80358048
gwascentralrs80358048
openSNPrs80358048
23andMers80358048
23andMe allrs80358048
SNP Nexus

SNPshotrs80358048
SNPdbers80358048
MSV3drs80358048
GWAS Ctlgrs80358048
Max Magnitude0
ClinVar
Risk rs80358048(A,T;A,T)
Alt rs80358048(A,T;A,T)
Reference rs80358048(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197820C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112666.1,