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rs398123064

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123064(C;C)
Make rs398123064(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35739017
GeneGBA2
is asnp
is mentioned by
dbSNPrs398123064
ebirs398123064
HLIrs398123064
Exacrs398123064
Varsomers398123064
Maprs398123064
PheGenIrs398123064
hapmaprs398123064
1000 genomesrs398123064
hgdprs398123064
ensemblrs398123064
gopubmedrs398123064
geneviewrs398123064
scholarrs398123064
googlers398123064
pharmgkbrs398123064
gwascentralrs398123064
openSNPrs398123064
23andMers398123064
23andMe allrs398123064
SNP Nexus

SNPshotrs398123064
SNPdbers398123064
MSV3drs398123064
GWAS Ctlgrs398123064
Max Magnitude0
ClinVar
Risk rs398123064(C;C)
Alt rs398123064(C;C)
Reference rs398123064(G;G)
Significance Pathogenic
Disease Spastic paraplegia 46
Variation info
Gene GBA2
CLNDBN Spastic paraplegia 46, autosomal recessive
Reversed 1
HGVS NC_000009.11:g.35739014C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000077800.3,