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rs80357514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357514(-;-)
Make rs80357514(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094289
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357514
ebirs80357514
HLIrs80357514
Exacrs80357514
Varsomers80357514
Maprs80357514
PheGenIrs80357514
hapmaprs80357514
1000 genomesrs80357514
hgdprs80357514
ensemblrs80357514
gopubmedrs80357514
geneviewrs80357514
scholarrs80357514
googlers80357514
pharmgkbrs80357514
gwascentralrs80357514
openSNPrs80357514
23andMers80357514
23andMe allrs80357514
SNP Nexus

SNPshotrs80357514
SNPdbers80357514
MSV3drs80357514
GWAS Ctlgrs80357514
Max Magnitude6
rs80357514, also known as 1360insA, c.1241_1242insA and p.Asp414?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357514(A;A)
Alt rs80357514(A;A)
Reference rs80357514(;)
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.41246307dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047389.2, RCV000111571.1,