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rs113994151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994151(C;C)
Make rs113994151(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75517064
GeneCASKIN2, TSEN54
is asnp
is mentioned by
dbSNPrs113994151
ebirs113994151
HLIrs113994151
Exacrs113994151
Varsomers113994151
Maprs113994151
PheGenIrs113994151
hapmaprs113994151
1000 genomesrs113994151
hgdprs113994151
ensemblrs113994151
gopubmedrs113994151
geneviewrs113994151
scholarrs113994151
googlers113994151
pharmgkbrs113994151
gwascentralrs113994151
openSNPrs113994151
23andMers113994151
23andMe allrs113994151
SNP Nexus

SNPshotrs113994151
SNPdbers113994151
MSV3drs113994151
GWAS Ctlgrs113994151
Max Magnitude0
OMIM608755
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994151(C;C)
Alt rs113994151(C;C)
Reference rs113994151(T;T)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 4
Variation info
Gene TSEN54 CASKIN2
CLNDBN Pontocerebellar hypoplasia type 4
Reversed 0
HGVS NC_000017.10:g.73513145T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002203.3, RCV000031854.1,