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rs80357688

From SNPedia

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


Make rs80357688(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093460
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357688
ebirs80357688
HLIrs80357688
Exacrs80357688
Varsomers80357688
Maprs80357688
PheGenIrs80357688
hapmaprs80357688
1000 genomesrs80357688
hgdprs80357688
ensemblrs80357688
gopubmedrs80357688
geneviewrs80357688
scholarrs80357688
googlers80357688
pharmgkbrs80357688
gwascentralrs80357688
openSNPrs80357688
23andMers80357688
23andMe allrs80357688
SNP Nexus

SNPshotrs80357688
SNPdbers80357688
MSV3drs80357688
GWAS Ctlgrs80357688
Max Magnitude6
rs80357688, also known as 2190delA, c.2071_2071delA and p.Arg691Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357688(;)
Alt rs80357688(;)
Reference rs80357688(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245477delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031025.7, RCV000047699.5, RCV000131404.2, RCV000167861.3,