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rs80358079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80358079(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057147
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358079
ClinGenrs80358079
ebirs80358079
HLIrs80358079
Exacrs80358079
Varsomers80358079
Maprs80358079
PheGenIrs80358079
hapmaprs80358079
1000 genomesrs80358079
hgdprs80358079
ensemblrs80358079
gopubmedrs80358079
geneviewrs80358079
scholarrs80358079
googlers80358079
pharmgkbrs80358079
gwascentralrs80358079
openSNPrs80358079
23andMers80358079
23andMe allrs80358079
SNP Nexus

SNPshotrs80358079
SNPdbers80358079
MSV3drs80358079
GWAS Ctlgrs80358079
Max Magnitude6
ClinVar
Risk rs80358079(A;A)
Alt rs80358079(A;A)
Reference Rs80358079(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41209164C>T
CLNSRC Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048851.3, RCV000077608.5,