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rs80357730

From SNPedia

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


Make rs80357730(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063348
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357730
ebirs80357730
HLIrs80357730
Exacrs80357730
Varsomers80357730
Maprs80357730
PheGenIrs80357730
hapmaprs80357730
1000 genomesrs80357730
hgdprs80357730
ensemblrs80357730
gopubmedrs80357730
geneviewrs80357730
scholarrs80357730
googlers80357730
pharmgkbrs80357730
gwascentralrs80357730
openSNPrs80357730
23andMers80357730
23andMe allrs80357730
SNP Nexus

SNPshotrs80357730
SNPdbers80357730
MSV3drs80357730
GWAS Ctlgrs80357730
Max Magnitude6
rs80357730, also known as 5296delGA, c.5177_5178delGA and p.Arg1726Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357730(;)
Alt rs80357730(;)
Reference rs80357730(GA;GA)
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.41215365_41215366delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048842.2, RCV000112546.1,