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rs80357616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357616(-;-)
Make rs80357616(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091710
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357616
ebirs80357616
HLIrs80357616
Exacrs80357616
Varsomers80357616
Maprs80357616
PheGenIrs80357616
hapmaprs80357616
1000 genomesrs80357616
hgdprs80357616
ensemblrs80357616
gopubmedrs80357616
geneviewrs80357616
scholarrs80357616
googlers80357616
pharmgkbrs80357616
gwascentralrs80357616
openSNPrs80357616
23andMers80357616
23andMe allrs80357616
SNP Nexus

SNPshotrs80357616
SNPdbers80357616
MSV3drs80357616
GWAS Ctlgrs80357616
Max Magnitude6
rs80357616, also known as 3939insG, c.3820_3821insG and p.Val1274?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357616(G;G)
Alt rs80357616(G;G)
Reference rs80357616(;)
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.41243728dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048344.2, RCV000112192.1,