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rs121912629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912629(A;T)
Make rs121912629(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132642364
GeneRAD50, TH2LCRR
is asnp
is mentioned by
dbSNPrs121912629
dbSNP (classic)rs121912629
ClinGenrs121912629
ebirs121912629
HLIrs121912629
Exacrs121912629
Gnomadrs121912629
Varsomers121912629
LitVarrs121912629
Maprs121912629
PheGenIrs121912629
Biobankrs121912629
1000 genomesrs121912629
hgdprs121912629
ensemblrs121912629
geneviewrs121912629
scholarrs121912629
googlers121912629
pharmgkbrs121912629
gwascentralrs121912629
openSNPrs121912629
23andMers121912629
SNPshotrs121912629
SNPdbers121912629
MSV3drs121912629
GWAS Ctlgrs121912629
Max Magnitude0
ClinVar
Risk rs121912629(T;T)
Alt rs121912629(T;T)
Reference Rs121912629(A;A)
Significance Pathogenic
Disease Nijmegen breakage syndrome-like disorder
Variation info
Gene LOC101927761 TH2LCRR RAD50
CLNDBN Nijmegen breakage syndrome-like disorder
Reversed 0
HGVS NC_000005.9:g.131978056A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006231.2,