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rs80358083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358083(A;G)
Make rs80358083(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106453
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358083
ebirs80358083
HLIrs80358083
Exacrs80358083
Varsomers80358083
Maprs80358083
PheGenIrs80358083
hapmaprs80358083
1000 genomesrs80358083
hgdprs80358083
ensemblrs80358083
gopubmedrs80358083
geneviewrs80358083
scholarrs80358083
googlers80358083
pharmgkbrs80358083
gwascentralrs80358083
openSNPrs80358083
23andMers80358083
23andMe allrs80358083
SNP Nexus

SNPshotrs80358083
SNPdbers80358083
MSV3drs80358083
GWAS Ctlgrs80358083
Max Magnitude0

c.212+3A>G

ClinVar clinical significance not provided

ClinVar
Risk rs80358083(G;G)
Alt rs80358083(G;G)
Reference rs80358083(A;A)
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.41258470T>C
CLNSRC Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000047719.2, RCV000083178.4,