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rs144133542

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144133542(C;T)
Make rs144133542(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position55181606
GeneCLHC1
is asnp
is mentioned by
dbSNPrs144133542
ebirs144133542
HLIrs144133542
Exacrs144133542
Varsomers144133542
Maprs144133542
PheGenIrs144133542
hapmaprs144133542
1000 genomesrs144133542
hgdprs144133542
ensemblrs144133542
gopubmedrs144133542
geneviewrs144133542
scholarrs144133542
googlers144133542
pharmgkbrs144133542
gwascentralrs144133542
openSNPrs144133542
23andMers144133542
23andMe allrs144133542
SNP Nexus

SNPshotrs144133542
SNPdbers144133542
MSV3drs144133542
GWAS Ctlgrs144133542
Max Magnitude0
ClinVar
Risk rs144133542(T;T)
Alt rs144133542(T;T)
Reference rs144133542(C;C)
Significance Probable-Pathogenic
Disease Marked Hypotonia Waddling gait
Variation info
Gene CLHC1
CLNDBN Marked Hypotonia Waddling gait
Reversed 0
HGVS NC_000002.11:g.55408742C>T
CLNSRC
CLNACC RCV000162101.1,