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rs797046054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046054(-;TA)
Make rs797046054(TA;TA)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75523735
GeneLLGL2, LOC107985023, TSEN54
is asnp
is mentioned by
dbSNPrs797046054
dbSNP (old)rs797046054
ClinGenrs797046054
ebirs797046054
HLIrs797046054
Exacrs797046054
Gnomadrs797046054
Varsomers797046054
Maprs797046054
PheGenIrs797046054
Biobankrs797046054
1000 genomesrs797046054
hgdprs797046054
ensemblrs797046054
gopubmedrs797046054
geneviewrs797046054
scholarrs797046054
googlers797046054
pharmgkbrs797046054
gwascentralrs797046054
openSNPrs797046054
23andMers797046054
23andMe allrs797046054
SNP Nexus

SNPshotrs797046054
SNPdbers797046054
MSV3drs797046054
GWAS Ctlgrs797046054
Max Magnitude0
ClinVar
Risk rs797046054(AT;AT)
Alt rs797046054(AT;AT)
Reference Rs797046054(-;-)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2A
Variation info
Gene TSEN54 LLGL2
CLNDBN Pontocerebellar hypoplasia type 2A
Reversed 0
HGVS NC_000017.10:g.73519816_73519817insTA
CLNSRC
CLNACC RCV000193727.1,