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rs398122659

From SNPedia

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


Make rs398122659(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104918
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122659
dbSNP (classic)rs398122659
ClinGenrs398122659
ebirs398122659
HLIrs398122659
Exacrs398122659
Gnomadrs398122659
Varsomers398122659
LitVarrs398122659
Maprs398122659
PheGenIrs398122659
Biobankrs398122659
1000 genomesrs398122659
hgdprs398122659
ensemblrs398122659
geneviewrs398122659
scholarrs398122659
googlers398122659
pharmgkbrs398122659
gwascentralrs398122659
openSNPrs398122659
23andMers398122659
SNPshotrs398122659
SNPdbers398122659
MSV3drs398122659
GWAS Ctlgrs398122659
Max Magnitude6

BRCA1, c.241_251delCAACTTGTTGA

ClinVar
Risk rs398122659(-;-)
Alt rs398122659(-;-)
Reference Rs398122659(CAACTTGTTGA;CAACTTGTTGA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41256935_41256945delTCAACAAGTTG
CLNSRC ClinVar
CLNACC RCV000077105.3,