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rs201861847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201861847(C;C)
Make rs201861847(C;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position146153928
GeneLARS
is asnp
is mentioned by
dbSNPrs201861847
dbSNP (classic)rs201861847
ClinGenrs201861847
ebirs201861847
HLIrs201861847
Exacrs201861847
Gnomadrs201861847
Varsomers201861847
LitVarrs201861847
Maprs201861847
PheGenIrs201861847
Biobankrs201861847
1000 genomesrs201861847
hgdprs201861847
ensemblrs201861847
geneviewrs201861847
scholarrs201861847
googlers201861847
pharmgkbrs201861847
gwascentralrs201861847
openSNPrs201861847
23andMers201861847
SNPshotrs201861847
SNPdbers201861847
MSV3drs201861847
GWAS Ctlgrs201861847
Max Magnitude0
ClinVar
Risk rs201861847(C;C)
Alt rs201861847(C;C)
Reference Rs201861847(T;T)
Significance Pathogenic
Disease Infantile liver failure syndrome 1
Variation info
Gene LARS
CLNDBN Infantile liver failure syndrome 1
Reversed 0
HGVS NC_000005.9:g.145533491T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000055666.31,