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rs80357689

From SNPedia

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


Make rs80357689(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094601
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357689
ebirs80357689
HLIrs80357689
Exacrs80357689
Varsomers80357689
Maprs80357689
PheGenIrs80357689
hapmaprs80357689
1000 genomesrs80357689
hgdprs80357689
ensemblrs80357689
gopubmedrs80357689
geneviewrs80357689
scholarrs80357689
googlers80357689
pharmgkbrs80357689
gwascentralrs80357689
openSNPrs80357689
23andMers80357689
23andMe allrs80357689
SNP Nexus

SNPshotrs80357689
SNPdbers80357689
MSV3drs80357689
GWAS Ctlgrs80357689
Max Magnitude6
rs80357689, also known as 1049delG, c.930_930delG and p.Gln310Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357689(;)
Alt rs80357689(;)
Reference rs80357689(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.41246618delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049195.2, RCV000111513.1,