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rs104894418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894418(C;T)
Make rs104894418(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position108209531
GeneLIG4
is asnp
is mentioned by
dbSNPrs104894418
ebirs104894418
HLIrs104894418
Exacrs104894418
Varsomers104894418
Maprs104894418
PheGenIrs104894418
hapmaprs104894418
1000 genomesrs104894418
hgdprs104894418
ensemblrs104894418
gopubmedrs104894418
geneviewrs104894418
scholarrs104894418
googlers104894418
pharmgkbrs104894418
gwascentralrs104894418
openSNPrs104894418
23andMers104894418
23andMe allrs104894418
SNP Nexus

SNPshotrs104894418
SNPdbers104894418
MSV3drs104894418
GWAS Ctlgrs104894418
Max Magnitude0
OMIM601837
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894418(G,T;G,T)
Alt rs104894418(G,T;G,T)
Reference rs104894418(C;C)
Significance Pathogenic
Disease Lig4 syndrome
Variation info
Gene LIG4
CLNDBN Lig4 syndrome
Reversed 1
HGVS NC_000013.10:g.108861879G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008111.2,