Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894419(C;T)
Make rs104894419(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position108208829
GeneLIG4
is asnp
is mentioned by
dbSNPrs104894419
ebirs104894419
HLIrs104894419
Exacrs104894419
Varsomers104894419
Maprs104894419
PheGenIrs104894419
hapmaprs104894419
1000 genomesrs104894419
hgdprs104894419
ensemblrs104894419
gopubmedrs104894419
geneviewrs104894419
scholarrs104894419
googlers104894419
pharmgkbrs104894419
gwascentralrs104894419
openSNPrs104894419
23andMers104894419
23andMe allrs104894419
SNP Nexus

SNPshotrs104894419
SNPdbers104894419
MSV3drs104894419
GWAS Ctlgrs104894419
GMAF0.0004591
Max Magnitude0
OMIM601837
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894419(T;T)
Alt rs104894419(T;T)
Reference rs104894419(C;C)
Significance Pathogenic
Disease Lig4 syndrome
Variation info
Gene LIG4
CLNDBN Lig4 syndrome
Reversed 1
HGVS NC_000013.10:g.108861177G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008112.2,



[PMID 24892279OA-icon.png] Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders