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rs398122632

From SNPedia

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


Make rs398122632(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094170
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122632
dbSNP (classic)rs398122632
ClinGenrs398122632
ebirs398122632
HLIrs398122632
Exacrs398122632
Gnomadrs398122632
Varsomers398122632
LitVarrs398122632
Maprs398122632
PheGenIrs398122632
Biobankrs398122632
1000 genomesrs398122632
hgdprs398122632
ensemblrs398122632
geneviewrs398122632
scholarrs398122632
googlers398122632
pharmgkbrs398122632
gwascentralrs398122632
openSNPrs398122632
23andMers398122632
SNPshotrs398122632
SNPdbers398122632
MSV3drs398122632
GWAS Ctlgrs398122632
Max Magnitude6

BRCA1, c.1361delG (p.Ser454Ilefs)

ClinVar
Risk rs398122632(-;-)
Alt rs398122632(-;-)
Reference Rs398122632(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246187delC
CLNSRC ClinVar
CLNACC RCV000077066.3,