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rs80357817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357817(-;-)
Make rs80357817(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094019
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357817
ebirs80357817
HLIrs80357817
Exacrs80357817
Varsomers80357817
Maprs80357817
PheGenIrs80357817
hapmaprs80357817
1000 genomesrs80357817
hgdprs80357817
ensemblrs80357817
gopubmedrs80357817
geneviewrs80357817
scholarrs80357817
googlers80357817
pharmgkbrs80357817
gwascentralrs80357817
openSNPrs80357817
23andMers80357817
23andMe allrs80357817
SNP Nexus

SNPshotrs80357817
SNPdbers80357817
MSV3drs80357817
GWAS Ctlgrs80357817
Max Magnitude6
rs80357817, also known as 1630insG, c.1511_1512insG and p.Arg504?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357817(G;G)
Alt rs80357817(G;G)
Reference rs80357817(;)
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.41246037dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047508.2, RCV000111638.1,