Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122687

From SNPedia

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


Make rs398122687(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074513
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122687
dbSNP (old)rs398122687
ClinGenrs398122687
ebirs398122687
HLIrs398122687
Exacrs398122687
Varsomers398122687
Maprs398122687
PheGenIrs398122687
Biobankrs398122687
1000 genomesrs398122687
hgdprs398122687
ensemblrs398122687
gopubmedrs398122687
geneviewrs398122687
scholarrs398122687
googlers398122687
pharmgkbrs398122687
gwascentralrs398122687
openSNPrs398122687
23andMers398122687
23andMe allrs398122687
SNP Nexus

SNPshotrs398122687
SNPdbers398122687
MSV3drs398122687
GWAS Ctlgrs398122687
Max Magnitude6

BRCA1, c.4493delC (p.Pro1498Leufs)

ClinVar
Risk rs398122687(-;-)
Alt rs398122687(-;-)
Reference Rs398122687(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41226530delG
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000077148.6, RCV000257896.1,