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rs80357722

From SNPedia

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


Make rs80357722(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094145
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357722
ebirs80357722
HLIrs80357722
Exacrs80357722
Varsomers80357722
Maprs80357722
PheGenIrs80357722
hapmaprs80357722
1000 genomesrs80357722
hgdprs80357722
ensemblrs80357722
gopubmedrs80357722
geneviewrs80357722
scholarrs80357722
googlers80357722
pharmgkbrs80357722
gwascentralrs80357722
openSNPrs80357722
23andMers80357722
23andMe allrs80357722
SNP Nexus

SNPshotrs80357722
SNPdbers80357722
MSV3drs80357722
GWAS Ctlgrs80357722
Max Magnitude6
rs80357722, also known as 1505delG, c.1386_1386delG and p.Gly462=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357722(;)
Alt rs80357722(;)
Reference rs80357722(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246162delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047453.2, RCV000077489.3, RCV000165641.1,