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rs398122677

From SNPedia

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


Make rs398122677(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091859
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122677
ClinGenrs398122677
ebirs398122677
HLIrs398122677
Exacrs398122677
Varsomers398122677
Maprs398122677
PheGenIrs398122677
hapmaprs398122677
1000 genomesrs398122677
hgdprs398122677
ensemblrs398122677
gopubmedrs398122677
geneviewrs398122677
scholarrs398122677
googlers398122677
pharmgkbrs398122677
gwascentralrs398122677
openSNPrs398122677
23andMers398122677
23andMe allrs398122677
SNP Nexus

SNPshotrs398122677
SNPdbers398122677
MSV3drs398122677
GWAS Ctlgrs398122677
Max Magnitude6

BRCA1, c.3672delC (p.Cys1225Alafs)

ClinVar
Risk rs398122677(-;-)
Alt rs398122677(-;-)
Reference Rs398122677(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41243876delG
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000077129.4, RCV000130025.3, RCV000168007.3, RCV000485024.1,