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rs113994153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994153(C;T)
Make rs113994153(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75521817
GeneTSEN54
is asnp
is mentioned by
dbSNPrs113994153
ebirs113994153
HLIrs113994153
Exacrs113994153
Varsomers113994153
Maprs113994153
PheGenIrs113994153
hapmaprs113994153
1000 genomesrs113994153
hgdprs113994153
ensemblrs113994153
gopubmedrs113994153
geneviewrs113994153
scholarrs113994153
googlers113994153
pharmgkbrs113994153
gwascentralrs113994153
openSNPrs113994153
23andMers113994153
23andMe allrs113994153
SNP Nexus

SNPshotrs113994153
SNPdbers113994153
MSV3drs113994153
GWAS Ctlgrs113994153
Max Magnitude0
OMIM608755
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994153(T;T)
Alt rs113994153(T;T)
Reference rs113994153(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 4
Variation info
Gene TSEN54
CLNDBN Pontocerebellar hypoplasia type 4
Reversed 0
HGVS NC_000017.10:g.73517898C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002204.3,