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rs80357874

From SNPedia

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


Make rs80357874(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063900
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357874
ebirs80357874
HLIrs80357874
Exacrs80357874
Varsomers80357874
Maprs80357874
PheGenIrs80357874
hapmaprs80357874
1000 genomesrs80357874
hgdprs80357874
ensemblrs80357874
gopubmedrs80357874
geneviewrs80357874
scholarrs80357874
googlers80357874
pharmgkbrs80357874
gwascentralrs80357874
openSNPrs80357874
23andMers80357874
23andMe allrs80357874
SNP Nexus

SNPshotrs80357874
SNPdbers80357874
MSV3drs80357874
GWAS Ctlgrs80357874
Max Magnitude6
rs80357874, also known as 5245delG, c.5126_5126delG and p.Gly1709Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357874(;)
Alt rs80357874(;)
Reference rs80357874(G;G)
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.41215917delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048804.2, RCV000112501.1,