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rs80357968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;GC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357968(-;-)
Make rs80357968(GC;GC)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092969
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357968
ebirs80357968
HLIrs80357968
Exacrs80357968
Varsomers80357968
Maprs80357968
PheGenIrs80357968
hapmaprs80357968
1000 genomesrs80357968
hgdprs80357968
ensemblrs80357968
gopubmedrs80357968
geneviewrs80357968
scholarrs80357968
googlers80357968
pharmgkbrs80357968
gwascentralrs80357968
openSNPrs80357968
23andMers80357968
23andMe allrs80357968
SNP Nexus

SNPshotrs80357968
SNPdbers80357968
MSV3drs80357968
GWAS Ctlgrs80357968
Max Magnitude6
rs80357968, also known as 2680insGC, c.2561_2562insGC and p.Ala854?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357968(GC;GC)
Alt rs80357968(GC;GC)
Reference rs80357968(;)
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.41244987_41244988dupGC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047877.2, RCV000111890.1,