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rs121908514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908514(A;G)
Make rs121908514(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position32127006
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908514
ebirs121908514
HLIrs121908514
Exacrs121908514
Varsomers121908514
Maprs121908514
PheGenIrs121908514
hapmaprs121908514
1000 genomesrs121908514
hgdprs121908514
ensemblrs121908514
gopubmedrs121908514
geneviewrs121908514
scholarrs121908514
googlers121908514
pharmgkbrs121908514
gwascentralrs121908514
openSNPrs121908514
23andMers121908514
23andMe allrs121908514
SNP Nexus

SNPshotrs121908514
SNPdbers121908514
MSV3drs121908514
GWAS Ctlgrs121908514
Max Magnitude0
OMIM604277
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908514(G;G)
Alt rs121908514(G;G)
Reference rs121908514(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.32352075A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006023.2,