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rs80357802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357802(-;-)
Make rs80357802(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093313
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357802
ebirs80357802
HLIrs80357802
Exacrs80357802
Varsomers80357802
Maprs80357802
PheGenIrs80357802
hapmaprs80357802
1000 genomesrs80357802
hgdprs80357802
ensemblrs80357802
gopubmedrs80357802
geneviewrs80357802
scholarrs80357802
googlers80357802
pharmgkbrs80357802
gwascentralrs80357802
openSNPrs80357802
23andMers80357802
23andMe allrs80357802
SNP Nexus

SNPshotrs80357802
SNPdbers80357802
MSV3drs80357802
GWAS Ctlgrs80357802
Max Magnitude6
rs80357802, also known as 2336insA, c.2217_2218insA and p.Lys739_Val740?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357802(A;A)
Alt rs80357802(A;A)
Reference rs80357802(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245331dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111797.1,