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rs121908511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908511(C;T)
Make rs121908511(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position32141905
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908511
ebirs121908511
HLIrs121908511
Exacrs121908511
Varsomers121908511
Maprs121908511
PheGenIrs121908511
hapmaprs121908511
1000 genomesrs121908511
hgdprs121908511
ensemblrs121908511
gopubmedrs121908511
geneviewrs121908511
scholarrs121908511
googlers121908511
pharmgkbrs121908511
gwascentralrs121908511
openSNPrs121908511
23andMers121908511
23andMe allrs121908511
SNP Nexus

SNPshotrs121908511
SNPdbers121908511
MSV3drs121908511
GWAS Ctlgrs121908511
Max Magnitude0
OMIM604277
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908511(T;T)
Alt rs121908511(T;T)
Reference rs121908511(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.32366974C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006014.2,