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rs398122633

From SNPedia

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


Make rs398122633(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094153
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122633
dbSNP (classic)rs398122633
ClinGenrs398122633
ebirs398122633
HLIrs398122633
Exacrs398122633
Gnomadrs398122633
Varsomers398122633
LitVarrs398122633
Maprs398122633
PheGenIrs398122633
Biobankrs398122633
1000 genomesrs398122633
hgdprs398122633
ensemblrs398122633
geneviewrs398122633
scholarrs398122633
googlers398122633
pharmgkbrs398122633
gwascentralrs398122633
openSNPrs398122633
23andMers398122633
SNPshotrs398122633
SNPdbers398122633
MSV3drs398122633
GWAS Ctlgrs398122633
Max Magnitude6

BRCA1, c.1377_1378delAA (p.Lys459Asnfs)

ClinVar
Risk rs398122633(-;-)
Alt rs398122633(-;-)
Reference Rs398122633(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246170_41246171delTT
CLNSRC ClinVar
CLNACC RCV000077067.3,