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rs80357758

From SNPedia

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


Make rs80357758(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099793
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357758
ebirs80357758
HLIrs80357758
Exacrs80357758
Varsomers80357758
Maprs80357758
PheGenIrs80357758
hapmaprs80357758
1000 genomesrs80357758
hgdprs80357758
ensemblrs80357758
gopubmedrs80357758
geneviewrs80357758
scholarrs80357758
googlers80357758
pharmgkbrs80357758
gwascentralrs80357758
openSNPrs80357758
23andMers80357758
23andMe allrs80357758
SNP Nexus

SNPshotrs80357758
SNPdbers80357758
MSV3drs80357758
GWAS Ctlgrs80357758
Max Magnitude6
rs80357758, also known as 648delT, c.529_529delT and p.Ser177Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357758(;)
Alt rs80357758(;)
Reference rs80357758(T;T)
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.41251810delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048916.2, RCV000112726.1,