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rs80357645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(GA;GA) 0 common in clinvar
Make rs80357645(-;-)
Make rs80357645(AG;AG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091769
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357645
ebirs80357645
HLIrs80357645
Exacrs80357645
Varsomers80357645
Maprs80357645
PheGenIrs80357645
hapmaprs80357645
1000 genomesrs80357645
hgdprs80357645
ensemblrs80357645
gopubmedrs80357645
geneviewrs80357645
scholarrs80357645
googlers80357645
pharmgkbrs80357645
gwascentralrs80357645
openSNPrs80357645
23andMers80357645
23andMe allrs80357645
SNP Nexus

SNPshotrs80357645
SNPdbers80357645
MSV3drs80357645
GWAS Ctlgrs80357645
Max Magnitude6
rs80357645, also known as 3880delAG, c.3761_3762delAG and p.Lys1254=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357645(;)
Alt rs80357645(;)
Reference rs80357645(GA;GA)
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.41243785_41243786delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048322.2, RCV000112176.1,