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rs80357796

From SNPedia

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


Make rs80357796(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094464
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357796
ebirs80357796
HLIrs80357796
Exacrs80357796
Varsomers80357796
Maprs80357796
PheGenIrs80357796
hapmaprs80357796
1000 genomesrs80357796
hgdprs80357796
ensemblrs80357796
gopubmedrs80357796
geneviewrs80357796
scholarrs80357796
googlers80357796
pharmgkbrs80357796
gwascentralrs80357796
openSNPrs80357796
23andMers80357796
23andMe allrs80357796
SNP Nexus

SNPshotrs80357796
SNPdbers80357796
MSV3drs80357796
GWAS Ctlgrs80357796
Max Magnitude6
rs80357796, also known as 1186delA, c.1067_1067delA and p.Gln356Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357796(;)
Alt rs80357796(;)
Reference rs80357796(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.41246481delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047327.2, RCV000077480.3,