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rs80357693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357693(-;-)
Make rs80357693(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092659
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357693
ebirs80357693
HLIrs80357693
Exacrs80357693
Varsomers80357693
Maprs80357693
PheGenIrs80357693
hapmaprs80357693
1000 genomesrs80357693
hgdprs80357693
ensemblrs80357693
gopubmedrs80357693
geneviewrs80357693
scholarrs80357693
googlers80357693
pharmgkbrs80357693
gwascentralrs80357693
openSNPrs80357693
23andMers80357693
23andMe allrs80357693
SNP Nexus

SNPshotrs80357693
SNPdbers80357693
MSV3drs80357693
GWAS Ctlgrs80357693
Max Magnitude6
rs80357693, also known as 2990insA, c.2871_2872insA and p.Gln957_Phe958?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357693(A;A)
Alt rs80357693(A;A)
Reference rs80357693(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244676_41244677insT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111954.1,