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rs80357130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357130(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076602
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357130
ebirs80357130
HLIrs80357130
Exacrs80357130
Varsomers80357130
Maprs80357130
PheGenIrs80357130
hapmaprs80357130
1000 genomesrs80357130
hgdprs80357130
ensemblrs80357130
gopubmedrs80357130
geneviewrs80357130
scholarrs80357130
googlers80357130
pharmgkbrs80357130
gwascentralrs80357130
openSNPrs80357130
23andMers80357130
23andMe allrs80357130
SNP Nexus

SNPshotrs80357130
SNPdbers80357130
MSV3drs80357130
GWAS Ctlgrs80357130
Max Magnitude6
rs80357130, also known as S1457X, c.4370C>G and p.Ser1457Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357130(G;G)
Alt rs80357130(G;G)
Reference rs80357130(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41228619G>C; NC_000017.10:g.41228619G>T
CLNSRC ClinVar
CLNACC RCV000048539.2, RCV000112327.1, RCV000225938.1,