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rs398123013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123013(C;T)
Make rs398123013(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position35741758
GeneGBA2
is asnp
is mentioned by
dbSNPrs398123013
dbSNP (old)rs398123013
ClinGenrs398123013
ebirs398123013
HLIrs398123013
Exacrs398123013
Gnomadrs398123013
Varsomers398123013
Maprs398123013
PheGenIrs398123013
Biobankrs398123013
1000 genomesrs398123013
hgdprs398123013
ensemblrs398123013
gopubmedrs398123013
geneviewrs398123013
scholarrs398123013
googlers398123013
pharmgkbrs398123013
gwascentralrs398123013
openSNPrs398123013
23andMers398123013
23andMe allrs398123013
SNP Nexus

SNPshotrs398123013
SNPdbers398123013
MSV3drs398123013
GWAS Ctlgrs398123013
Max Magnitude0
ClinVar
Risk rs398123013(T;T)
Alt rs398123013(T;T)
Reference Rs398123013(C;C)
Significance Pathogenic
Disease Spastic paraplegia 46
Variation info
Gene GBA2
CLNDBN Spastic paraplegia 46, autosomal recessive
Reversed 1
HGVS NC_000009.11:g.35741755G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034370.4,