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rs80357748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357748(-;-)
Make rs80357748(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082439
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357748
ebirs80357748
HLIrs80357748
Exacrs80357748
Varsomers80357748
Maprs80357748
PheGenIrs80357748
hapmaprs80357748
1000 genomesrs80357748
hgdprs80357748
ensemblrs80357748
gopubmedrs80357748
geneviewrs80357748
scholarrs80357748
googlers80357748
pharmgkbrs80357748
gwascentralrs80357748
openSNPrs80357748
23andMers80357748
23andMe allrs80357748
SNP Nexus

SNPshotrs80357748
SNPdbers80357748
MSV3drs80357748
GWAS Ctlgrs80357748
Max Magnitude6
rs80357748, also known as 4440insG, c.4321_4322insG and p.Asp1441?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357748(G;G)
Alt rs80357748(G;G)
Reference rs80357748(;)
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.41234457dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048521.2, RCV000112315.1,