Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358182

From SNPedia

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


Make rs80358182(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43051061
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358182
dbSNP (classic)rs80358182
ClinGenrs80358182
ebirs80358182
HLIrs80358182
Exacrs80358182
Gnomadrs80358182
Varsomers80358182
LitVarrs80358182
Maprs80358182
PheGenIrs80358182
Biobankrs80358182
1000 genomesrs80358182
hgdprs80358182
ensemblrs80358182
geneviewrs80358182
scholarrs80358182
googlers80358182
pharmgkbrs80358182
gwascentralrs80358182
openSNPrs80358182
23andMers80358182
SNPshotrs80358182
SNPdbers80358182
MSV3drs80358182
GWAS Ctlgrs80358182
Max Magnitude6
ClinVar
Risk rs80358182(A;A) rs80358182(C;C) rs80358182(G;G)
Alt rs80358182(A;A) rs80358182(C;C) rs80358182(G;G)
Reference Rs80358182(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41203078A>G; NC_000017.10:g.41203078A>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000258412.1, RCV000112616.1,