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rs80357754

From SNPedia

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


Make rs80357754(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104233
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357754
ebirs80357754
HLIrs80357754
Exacrs80357754
Varsomers80357754
Maprs80357754
PheGenIrs80357754
hapmaprs80357754
1000 genomesrs80357754
hgdprs80357754
ensemblrs80357754
gopubmedrs80357754
geneviewrs80357754
scholarrs80357754
googlers80357754
pharmgkbrs80357754
gwascentralrs80357754
openSNPrs80357754
23andMers80357754
23andMe allrs80357754
SNP Nexus

SNPshotrs80357754
SNPdbers80357754
MSV3drs80357754
GWAS Ctlgrs80357754
Max Magnitude6
rs80357754, also known as 448delAG, c.329_330delAG and p.Lys110Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357754(;)
Alt rs80357754(;)
Reference rs80357754(AG;AG)
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.41256250_41256251delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048131.2, RCV000077541.4,