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rs121908518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908518(C;G)
Make rs121908518(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position32145004
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908518
ebirs121908518
HLIrs121908518
Exacrs121908518
Varsomers121908518
Maprs121908518
PheGenIrs121908518
hapmaprs121908518
1000 genomesrs121908518
hgdprs121908518
ensemblrs121908518
gopubmedrs121908518
geneviewrs121908518
scholarrs121908518
googlers121908518
pharmgkbrs121908518
gwascentralrs121908518
openSNPrs121908518
23andMers121908518
23andMe allrs121908518
SNP Nexus

SNPshotrs121908518
SNPdbers121908518
MSV3drs121908518
GWAS Ctlgrs121908518
Max Magnitude0
OMIM604277
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908518(G;G)
Alt rs121908518(G;G)
Reference rs121908518(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.32370073C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006027.2,