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rs121434561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434561(C;T)
Make rs121434561(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position48121244
GeneLIG1
is asnp
is mentioned by
dbSNPrs121434561
ebirs121434561
HLIrs121434561
Exacrs121434561
Varsomers121434561
Maprs121434561
PheGenIrs121434561
hapmaprs121434561
1000 genomesrs121434561
hgdprs121434561
ensemblrs121434561
gopubmedrs121434561
geneviewrs121434561
scholarrs121434561
googlers121434561
pharmgkbrs121434561
gwascentralrs121434561
openSNPrs121434561
23andMers121434561
23andMe allrs121434561
SNP Nexus

SNPshotrs121434561
SNPdbers121434561
MSV3drs121434561
GWAS Ctlgrs121434561
Max Magnitude0
OMIM126391
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434561(T;T)
Alt rs121434561(T;T)
Reference rs121434561(C;C)
Significance Pathogenic
Disease DNA ligase I deficiency
Variation info
Gene LIG1
CLNDBN DNA ligase I deficiency
Reversed 1
HGVS NC_000019.9:g.48624501G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018264.28,