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rs398122630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs398122630(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094204
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122630
dbSNP (classic)rs398122630
ClinGenrs398122630
ebirs398122630
HLIrs398122630
Exacrs398122630
Gnomadrs398122630
Varsomers398122630
LitVarrs398122630
Maprs398122630
PheGenIrs398122630
Biobankrs398122630
1000 genomesrs398122630
hgdprs398122630
ensemblrs398122630
geneviewrs398122630
scholarrs398122630
googlers398122630
pharmgkbrs398122630
gwascentralrs398122630
openSNPrs398122630
23andMers398122630
SNPshotrs398122630
SNPdbers398122630
MSV3drs398122630
GWAS Ctlgrs398122630
Max Magnitude6
ClinVar
Risk rs398122630(T;T)
Alt rs398122630(T;T)
Reference Rs398122630(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Neoplasm of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Neoplasm of breast
Reversed 1
HGVS NC_000017.10:g.41246221T>A
CLNSRC ClinVar
CLNACC RCV000077062.3, RCV000413037.1,