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rs113994152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994152(G;T)
Make rs113994152(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75522000
GeneTSEN54
is asnp
is mentioned by
dbSNPrs113994152
ebirs113994152
HLIrs113994152
Exacrs113994152
Varsomers113994152
Maprs113994152
PheGenIrs113994152
hapmaprs113994152
1000 genomesrs113994152
hgdprs113994152
ensemblrs113994152
gopubmedrs113994152
geneviewrs113994152
scholarrs113994152
googlers113994152
pharmgkbrs113994152
gwascentralrs113994152
openSNPrs113994152
23andMers113994152
23andMe allrs113994152
SNP Nexus

SNPshotrs113994152
SNPdbers113994152
MSV3drs113994152
GWAS Ctlgrs113994152
GMAF0.0004591
Max Magnitude0
OMIM608755
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994152(T;T)
Alt rs113994152(T;T)
Reference rs113994152(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Olivopontocerebellar hypoplasia Pontocerebellar hypoplasia type 5 not provided
Variation info
Gene TSEN54
CLNDBN Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4 Olivopontocerebellar hypoplasia Pontocerebellar hypoplasia type 5 not provided
Reversed 0
HGVS NC_000017.10:g.73518081G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002201.4, RCV000002203.3, RCV000147790.1, RCV000157630.4, RCV000157631.3, RCV000224437.1,