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rs398122681

From SNPedia

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


Make rs398122681(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091437
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122681
dbSNP (classic)rs398122681
ClinGenrs398122681
ebirs398122681
HLIrs398122681
Exacrs398122681
Gnomadrs398122681
Varsomers398122681
LitVarrs398122681
Maprs398122681
PheGenIrs398122681
Biobankrs398122681
1000 genomesrs398122681
hgdprs398122681
ensemblrs398122681
geneviewrs398122681
scholarrs398122681
googlers398122681
pharmgkbrs398122681
gwascentralrs398122681
openSNPrs398122681
23andMers398122681
SNPshotrs398122681
SNPdbers398122681
MSV3drs398122681
GWAS Ctlgrs398122681
Max Magnitude6
ClinVar
Risk rs398122681(G;G)
Alt rs398122681(G;G)
Reference Rs398122681(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243454A>C
CLNSRC ClinVar
CLNACC RCV000077140.4,