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rs398122650

From SNPedia

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


Make rs398122650(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093610
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122650
dbSNP (classic)rs398122650
ClinGenrs398122650
ebirs398122650
HLIrs398122650
Exacrs398122650
Gnomadrs398122650
Varsomers398122650
LitVarrs398122650
Maprs398122650
PheGenIrs398122650
Biobankrs398122650
1000 genomesrs398122650
hgdprs398122650
ensemblrs398122650
geneviewrs398122650
scholarrs398122650
googlers398122650
pharmgkbrs398122650
gwascentralrs398122650
openSNPrs398122650
23andMers398122650
SNPshotrs398122650
SNPdbers398122650
MSV3drs398122650
GWAS Ctlgrs398122650
Max Magnitude6

BRCA1, c.1921delA (p.Ile641Leufs)

ClinVar
Risk rs398122650(-;-)
Alt rs398122650(-;-)
Reference Rs398122650(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245627delT
CLNSRC ClinVar
CLNACC RCV000077088.3,