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rs398123014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123014(C;T)
Make rs398123014(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position35740833
GeneGBA2
is asnp
is mentioned by
dbSNPrs398123014
ebirs398123014
HLIrs398123014
Exacrs398123014
Varsomers398123014
Maprs398123014
PheGenIrs398123014
hapmaprs398123014
1000 genomesrs398123014
hgdprs398123014
ensemblrs398123014
gopubmedrs398123014
geneviewrs398123014
scholarrs398123014
googlers398123014
pharmgkbrs398123014
gwascentralrs398123014
openSNPrs398123014
23andMers398123014
23andMe allrs398123014
SNP Nexus

SNPshotrs398123014
SNPdbers398123014
MSV3drs398123014
GWAS Ctlgrs398123014
Max Magnitude0
ClinVar
Risk rs398123014(G,T;G,T)
Alt rs398123014(G,T;G,T)
Reference rs398123014(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.35740830G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034373.4,