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rs398122673

From SNPedia

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


Make rs398122673(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092327
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122673
dbSNP (classic)rs398122673
ClinGenrs398122673
ebirs398122673
HLIrs398122673
Exacrs398122673
Gnomadrs398122673
Varsomers398122673
LitVarrs398122673
Maprs398122673
PheGenIrs398122673
Biobankrs398122673
1000 genomesrs398122673
hgdprs398122673
ensemblrs398122673
geneviewrs398122673
scholarrs398122673
googlers398122673
pharmgkbrs398122673
gwascentralrs398122673
openSNPrs398122673
23andMers398122673
SNPshotrs398122673
SNPdbers398122673
MSV3drs398122673
GWAS Ctlgrs398122673
Max Magnitude6

BRCA1, c.3204delT (p.Gln1069Lysfs)

ClinVar
Risk rs398122673(-;-)
Alt rs398122673(-;-)
Reference Rs398122673(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244344delA
CLNSRC ClinVar
CLNACC RCV000077124.3,