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rs121908519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908519(A;A)
Make rs121908519(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position32136890
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908519
ebirs121908519
HLIrs121908519
Exacrs121908519
Varsomers121908519
Maprs121908519
PheGenIrs121908519
hapmaprs121908519
1000 genomesrs121908519
hgdprs121908519
ensemblrs121908519
gopubmedrs121908519
geneviewrs121908519
scholarrs121908519
googlers121908519
pharmgkbrs121908519
gwascentralrs121908519
openSNPrs121908519
23andMers121908519
23andMe allrs121908519
SNP Nexus

SNPshotrs121908519
SNPdbers121908519
MSV3drs121908519
GWAS Ctlgrs121908519
Max Magnitude0
OMIM604277
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121908519(A;A)
Alt rs121908519(A;A)
Reference rs121908519(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.32361959C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006030.3,