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rs151332020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151332020(A;A)
Make rs151332020(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position75523764
GeneLLGL2, LOC107985023, TSEN54
is asnp
is mentioned by
dbSNPrs151332020
dbSNP (old)rs151332020
ClinGenrs151332020
ebirs151332020
HLIrs151332020
Exacrs151332020
Gnomadrs151332020
Varsomers151332020
LitVarrs151332020
Maprs151332020
PheGenIrs151332020
Biobankrs151332020
1000 genomesrs151332020
hgdprs151332020
ensemblrs151332020
gopubmedrs151332020
geneviewrs151332020
scholarrs151332020
googlers151332020
pharmgkbrs151332020
gwascentralrs151332020
openSNPrs151332020
23andMers151332020
23andMe allrs151332020
SNPshotrs151332020
SNPdbers151332020
MSV3drs151332020
GWAS Ctlgrs151332020
Max Magnitude0
ClinVar
Risk rs151332020(A;A)
Alt rs151332020(A;A)
Reference Rs151332020(G;G)
Significance Probable-Pathogenic
Disease Pontoneocerebellar hypoplasia not provided
Variation info
Gene TSEN54 LLGL2
CLNDBN Pontoneocerebellar hypoplasia not provided
Reversed 0
HGVS NC_000017.10:g.73519845G>A
CLNSRC
CLNACC RCV000383316.1, RCV000433179.1,