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rs121908509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908509(C;G)
Make rs121908509(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position32116199
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908509
dbSNP (classic)rs121908509
ClinGenrs121908509
ebirs121908509
HLIrs121908509
Exacrs121908509
Gnomadrs121908509
Varsomers121908509
LitVarrs121908509
Maprs121908509
PheGenIrs121908509
Biobankrs121908509
1000 genomesrs121908509
hgdprs121908509
ensemblrs121908509
geneviewrs121908509
scholarrs121908509
googlers121908509
pharmgkbrs121908509
gwascentralrs121908509
openSNPrs121908509
23andMers121908509
SNPshotrs121908509
SNPdbers121908509
MSV3drs121908509
GWAS Ctlgrs121908509
Max Magnitude0
OMIM604277
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908509(G;G)
Alt rs121908509(G;G)
Reference Rs121908509(C;C)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32341268C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006011.2,