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rs118203992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203992(A;A)
Make rs118203992(A;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position46335766
GeneTRMU
is asnp
is mentioned by
dbSNPrs118203992
dbSNP (classic)rs118203992
ClinGenrs118203992
ebirs118203992
HLIrs118203992
Exacrs118203992
Gnomadrs118203992
Varsomers118203992
LitVarrs118203992
Maprs118203992
PheGenIrs118203992
Biobankrs118203992
1000 genomesrs118203992
hgdprs118203992
ensemblrs118203992
geneviewrs118203992
scholarrs118203992
googlers118203992
pharmgkbrs118203992
gwascentralrs118203992
openSNPrs118203992
23andMers118203992
SNPshotrs118203992
SNPdbers118203992
MSV3drs118203992
GWAS Ctlgrs118203992
Max Magnitude0
OMIM610230
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118203992(A;A) rs118203992(C;C) rs118203992(G;G)
Alt rs118203992(A;A) rs118203992(C;C) rs118203992(G;G)
Reference Rs118203992(T;T)
Significance Pathogenic
Disease Liver failure acute infantile not provided
Variation info
Gene TRMU
CLNDBN Liver failure acute infantile not provided
Reversed 0
HGVS NC_000022.10:g.46731663T>A; NC_000022.10:g.46731663T>C; NC_000022.10:g.46731663T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001357.2, RCV000402876.1, RCV000198888.1,