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rs797046055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046055(-;C)
Make rs797046055(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75523746
GeneLLGL2, LOC107985023, TSEN54
is asnp
is mentioned by
dbSNPrs797046055
dbSNP (old)rs797046055
ClinGenrs797046055
ebirs797046055
HLIrs797046055
Exacrs797046055
Varsomers797046055
Maprs797046055
PheGenIrs797046055
Biobankrs797046055
1000 genomesrs797046055
hgdprs797046055
ensemblrs797046055
gopubmedrs797046055
geneviewrs797046055
scholarrs797046055
googlers797046055
pharmgkbrs797046055
gwascentralrs797046055
openSNPrs797046055
23andMers797046055
23andMe allrs797046055
SNP Nexus

SNPshotrs797046055
SNPdbers797046055
MSV3drs797046055
GWAS Ctlgrs797046055
Max Magnitude0
ClinVar
Risk rs797046055(C;C)
Alt rs797046055(C;C)
Reference Rs797046055(-;-)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2A
Variation info
Gene TSEN54 LLGL2
CLNDBN Pontocerebellar hypoplasia type 2A
Reversed 0
HGVS NC_000017.10:g.73519827dupC
CLNSRC
CLNACC RCV000194772.1,