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rs80357317

From SNPedia

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


Make rs80357317(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092222
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357317
ebirs80357317
HLIrs80357317
Exacrs80357317
Varsomers80357317
Maprs80357317
PheGenIrs80357317
hapmaprs80357317
1000 genomesrs80357317
hgdprs80357317
ensemblrs80357317
gopubmedrs80357317
geneviewrs80357317
scholarrs80357317
googlers80357317
pharmgkbrs80357317
gwascentralrs80357317
openSNPrs80357317
23andMers80357317
23andMe allrs80357317
SNP Nexus

SNPshotrs80357317
SNPdbers80357317
MSV3drs80357317
GWAS Ctlgrs80357317
Max Magnitude6
rs80357317, also known as C1103X, c.3309T>A and p.Cys1103Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357317(A;A)
Alt rs80357317(A;A)
Reference rs80357317(T;T)
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.41244239A>T
CLNSRC ClinVar
CLNACC RCV000048138.2, RCV000112056.1,