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rs398122629

From SNPedia

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


Make rs398122629(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094239
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122629
dbSNP (classic)rs398122629
ClinGenrs398122629
ebirs398122629
HLIrs398122629
Exacrs398122629
Gnomadrs398122629
Varsomers398122629
LitVarrs398122629
Maprs398122629
PheGenIrs398122629
Biobankrs398122629
1000 genomesrs398122629
hgdprs398122629
ensemblrs398122629
geneviewrs398122629
scholarrs398122629
googlers398122629
pharmgkbrs398122629
gwascentralrs398122629
openSNPrs398122629
23andMers398122629
SNPshotrs398122629
SNPdbers398122629
MSV3drs398122629
GWAS Ctlgrs398122629
Max Magnitude6

BRCA1, c.1292delT (p.Leu431Tyrfs)

ClinVar
Risk rs398122629(-;-)
Alt rs398122629(-;-)
Reference Rs398122629(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.41246256delA
CLNSRC ClinVar
CLNACC RCV000077060.3,