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rs121912628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912628(C;T)
Make rs121912628(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132618182
GeneRAD50
is asnp
is mentioned by
dbSNPrs121912628
ebirs121912628
HLIrs121912628
Exacrs121912628
Varsomers121912628
Maprs121912628
PheGenIrs121912628
hapmaprs121912628
1000 genomesrs121912628
hgdprs121912628
ensemblrs121912628
gopubmedrs121912628
geneviewrs121912628
scholarrs121912628
googlers121912628
pharmgkbrs121912628
gwascentralrs121912628
openSNPrs121912628
23andMers121912628
23andMe allrs121912628
SNP Nexus

SNPshotrs121912628
SNPdbers121912628
MSV3drs121912628
GWAS Ctlgrs121912628
Max Magnitude0
OMIM604040
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912628(T;T)
Alt rs121912628(T;T)
Reference rs121912628(C;C)
Significance Pathogenic
Disease Nijmegen breakage syndrome-like disorder
Variation info
Gene RAD50
CLNDBN Nijmegen breakage syndrome-like disorder
Reversed 0
HGVS NC_000005.9:g.131953874C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006230.2,