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rs80357974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357974(-;-)
Make rs80357974(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43067625
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357974
ebirs80357974
HLIrs80357974
Exacrs80357974
Varsomers80357974
Maprs80357974
PheGenIrs80357974
hapmaprs80357974
1000 genomesrs80357974
hgdprs80357974
ensemblrs80357974
gopubmedrs80357974
geneviewrs80357974
scholarrs80357974
googlers80357974
pharmgkbrs80357974
gwascentralrs80357974
openSNPrs80357974
23andMers80357974
23andMe allrs80357974
SNP Nexus

SNPshotrs80357974
SNPdbers80357974
MSV3drs80357974
GWAS Ctlgrs80357974
Max Magnitude6
rs80357974, also known as 5175insC, c.5056_5057insC and p.His1686?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357974(C;C)
Alt rs80357974(C;C)
Reference rs80357974(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41219643dupG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112477.1,