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rs398123015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123015(A;A)
Make rs398123015(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35737335
GeneCREB3, GBA2
is asnp
is mentioned by
dbSNPrs398123015
dbSNP (classic)rs398123015
ClinGenrs398123015
ebirs398123015
HLIrs398123015
Exacrs398123015
Gnomadrs398123015
Varsomers398123015
LitVarrs398123015
Maprs398123015
PheGenIrs398123015
Biobankrs398123015
1000 genomesrs398123015
hgdprs398123015
ensemblrs398123015
geneviewrs398123015
scholarrs398123015
googlers398123015
pharmgkbrs398123015
gwascentralrs398123015
openSNPrs398123015
23andMers398123015
SNPshotrs398123015
SNPdbers398123015
MSV3drs398123015
GWAS Ctlgrs398123015
Max Magnitude0
ClinVar
Risk rs398123015(A;A)
Alt rs398123015(A;A)
Reference Rs398123015(G;G)
Significance Pathogenic
Disease Spastic paraplegia 46
Variation info
Gene CREB3 GBA2
CLNDBN Spastic paraplegia 46, autosomal recessive
Reversed 1
HGVS NC_000009.11:g.35737332C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000034374.4,