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rs121434560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434560(A;A)
Make rs121434560(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position48133011
GeneLIG1
is asnp
is mentioned by
dbSNPrs121434560
ebirs121434560
HLIrs121434560
Exacrs121434560
Varsomers121434560
Maprs121434560
PheGenIrs121434560
hapmaprs121434560
1000 genomesrs121434560
hgdprs121434560
ensemblrs121434560
gopubmedrs121434560
geneviewrs121434560
scholarrs121434560
googlers121434560
pharmgkbrs121434560
gwascentralrs121434560
openSNPrs121434560
23andMers121434560
23andMe allrs121434560
SNP Nexus

SNPshotrs121434560
SNPdbers121434560
MSV3drs121434560
GWAS Ctlgrs121434560
Max Magnitude0
OMIM126391
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434560(A;A)
Alt rs121434560(A;A)
Reference rs121434560(G;G)
Significance Pathogenic
Disease DNA ligase I deficiency
Variation info
Gene LIG1
CLNDBN DNA ligase I deficiency
Reversed 1
HGVS NC_000019.9:g.48636268C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018263.28,