Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994154(C;T)
Make rs113994154(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75522108
GeneTSEN54
is asnp
is mentioned by
dbSNPrs113994154
ebirs113994154
HLIrs113994154
Exacrs113994154
Varsomers113994154
Maprs113994154
PheGenIrs113994154
hapmaprs113994154
1000 genomesrs113994154
hgdprs113994154
ensemblrs113994154
gopubmedrs113994154
geneviewrs113994154
scholarrs113994154
googlers113994154
pharmgkbrs113994154
gwascentralrs113994154
openSNPrs113994154
23andMers113994154
23andMe allrs113994154
SNP Nexus

SNPshotrs113994154
SNPdbers113994154
MSV3drs113994154
GWAS Ctlgrs113994154
Max Magnitude0
OMIM608755
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994154(T;T)
Alt rs113994154(T;T)
Reference rs113994154(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.73518189C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002205.2,