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rs80357962

From SNPedia

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


Make rs80357962(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092919
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357962
ebirs80357962
HLIrs80357962
Exacrs80357962
Varsomers80357962
Maprs80357962
PheGenIrs80357962
hapmaprs80357962
1000 genomesrs80357962
hgdprs80357962
ensemblrs80357962
gopubmedrs80357962
geneviewrs80357962
scholarrs80357962
googlers80357962
pharmgkbrs80357962
gwascentralrs80357962
openSNPrs80357962
23andMers80357962
23andMe allrs80357962
SNP Nexus

SNPshotrs80357962
SNPdbers80357962
MSV3drs80357962
GWAS Ctlgrs80357962
Max Magnitude6
rs80357962, also known as 2730delCC, c.2611_2612delCC and p.Pro871Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357962(;)
Alt rs80357962(;)
Reference rs80357962(CC;CC)
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.41244936_41244937delGG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047898.2, RCV000111901.1,