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rs121908512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908512(A;G)
Make rs121908512(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position32136877
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908512
dbSNP (classic)rs121908512
ClinGenrs121908512
ebirs121908512
HLIrs121908512
Exacrs121908512
Gnomadrs121908512
Varsomers121908512
LitVarrs121908512
Maprs121908512
PheGenIrs121908512
Biobankrs121908512
1000 genomesrs121908512
hgdprs121908512
ensemblrs121908512
geneviewrs121908512
scholarrs121908512
googlers121908512
pharmgkbrs121908512
gwascentralrs121908512
openSNPrs121908512
23andMers121908512
SNPshotrs121908512
SNPdbers121908512
MSV3drs121908512
GWAS Ctlgrs121908512
Max Magnitude0
OMIM604277
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908512(G;G)
Alt rs121908512(G;G)
Reference Rs121908512(A;A)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32361946A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006018.2,