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rs104894421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894421(A;A)
Make rs104894421(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position108210436
GeneLIG4
is asnp
is mentioned by
dbSNPrs104894421
dbSNP (classic)rs104894421
ClinGenrs104894421
ebirs104894421
HLIrs104894421
Exacrs104894421
Gnomadrs104894421
Varsomers104894421
LitVarrs104894421
Maprs104894421
PheGenIrs104894421
Biobankrs104894421
1000 genomesrs104894421
hgdprs104894421
ensemblrs104894421
geneviewrs104894421
scholarrs104894421
googlers104894421
pharmgkbrs104894421
gwascentralrs104894421
openSNPrs104894421
23andMers104894421
SNPshotrs104894421
SNPdbers104894421
MSV3drs104894421
GWAS Ctlgrs104894421
Max Magnitude0
OMIM601837
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894421(A;A)
Alt rs104894421(A;A)
Reference Rs104894421(G;G)
Significance Pathogenic
Disease Lig4 syndrome
Variation info
Gene LIG4
CLNDBN Lig4 syndrome
Reversed 1
HGVS NC_000013.10:g.108862784C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008114.2,