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rs80357506

From SNPedia

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


Make rs80357506(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094023
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357506
ebirs80357506
HLIrs80357506
Exacrs80357506
Varsomers80357506
Maprs80357506
PheGenIrs80357506
hapmaprs80357506
1000 genomesrs80357506
hgdprs80357506
ensemblrs80357506
gopubmedrs80357506
geneviewrs80357506
scholarrs80357506
googlers80357506
pharmgkbrs80357506
gwascentralrs80357506
openSNPrs80357506
23andMers80357506
23andMe allrs80357506
SNP Nexus

SNPshotrs80357506
SNPdbers80357506
MSV3drs80357506
GWAS Ctlgrs80357506
Max Magnitude6
rs80357506, also known as 1627delA, c.1508_1508delA and p.Lys503Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357506(;)
Alt rs80357506(;)
Reference rs80357506(A;A)
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.41246040delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047503.2, RCV000111634.1,