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rs121908513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908513(A;A)
Make rs121908513(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position32116145
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908513
ebirs121908513
HLIrs121908513
Exacrs121908513
Varsomers121908513
Maprs121908513
PheGenIrs121908513
hapmaprs121908513
1000 genomesrs121908513
hgdprs121908513
ensemblrs121908513
gopubmedrs121908513
geneviewrs121908513
scholarrs121908513
googlers121908513
pharmgkbrs121908513
gwascentralrs121908513
openSNPrs121908513
23andMers121908513
23andMe allrs121908513
SNP Nexus

SNPshotrs121908513
SNPdbers121908513
MSV3drs121908513
GWAS Ctlgrs121908513
Max Magnitude0
OMIM604277
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908513(A;A)
Alt rs121908513(A;A)
Reference rs121908513(T;T)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32341214T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006022.2,