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rs121908516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908516(A;T)
Make rs121908516(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position32136964
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908516
ebirs121908516
HLIrs121908516
Exacrs121908516
Varsomers121908516
Maprs121908516
PheGenIrs121908516
hapmaprs121908516
1000 genomesrs121908516
hgdprs121908516
ensemblrs121908516
gopubmedrs121908516
geneviewrs121908516
scholarrs121908516
googlers121908516
pharmgkbrs121908516
gwascentralrs121908516
openSNPrs121908516
23andMers121908516
23andMe allrs121908516
SNP Nexus

SNPshotrs121908516
SNPdbers121908516
MSV3drs121908516
GWAS Ctlgrs121908516
Merged fromRs28939368
Max Magnitude0
OMIM604277
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908516(T;T)
Alt rs121908516(T;T)
Reference rs121908516(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.32362033A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006024.2,