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rs398122641

From SNPedia

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


Make rs398122641(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093787
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122641
dbSNP (classic)rs398122641
ClinGenrs398122641
ebirs398122641
HLIrs398122641
Exacrs398122641
Gnomadrs398122641
Varsomers398122641
LitVarrs398122641
Maprs398122641
PheGenIrs398122641
Biobankrs398122641
1000 genomesrs398122641
hgdprs398122641
ensemblrs398122641
geneviewrs398122641
scholarrs398122641
googlers398122641
pharmgkbrs398122641
gwascentralrs398122641
openSNPrs398122641
23andMers398122641
SNPshotrs398122641
SNPdbers398122641
MSV3drs398122641
GWAS Ctlgrs398122641
Max Magnitude6

BRCA1, c.1744delA (p.Thr582Argfs)

ClinVar
Risk rs398122641(-;-)
Alt rs398122641(-;-)
Reference Rs398122641(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.41245804delT
CLNSRC ClinVar
CLNACC RCV000077078.4,