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rs118203990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203990(C;C)
Make rs118203990(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position46337925
GeneTRMU
is asnp
is mentioned by
dbSNPrs118203990
dbSNP (classic)rs118203990
ClinGenrs118203990
ebirs118203990
HLIrs118203990
Exacrs118203990
Gnomadrs118203990
Varsomers118203990
LitVarrs118203990
Maprs118203990
PheGenIrs118203990
Biobankrs118203990
1000 genomesrs118203990
hgdprs118203990
ensemblrs118203990
geneviewrs118203990
scholarrs118203990
googlers118203990
pharmgkbrs118203990
gwascentralrs118203990
openSNPrs118203990
23andMers118203990
SNPshotrs118203990
SNPdbers118203990
MSV3drs118203990
GWAS Ctlgrs118203990
Max Magnitude0
OMIM610230
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203990(C;C)
Alt rs118203990(C;C)
Reference Rs118203990(T;T)
Significance Pathogenic
Disease Liver failure acute infantile
Variation info
Gene TRMU
CLNDBN Liver failure acute infantile
Reversed 0
HGVS NC_000022.10:g.46733822T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001354.2,