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rs121908515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908515(C;T)
Make rs121908515(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position32063962
GeneSPAST
is asnp
is mentioned by
dbSNPrs121908515
dbSNP (classic)rs121908515
ClinGenrs121908515
ebirs121908515
HLIrs121908515
Exacrs121908515
Gnomadrs121908515
Varsomers121908515
LitVarrs121908515
Maprs121908515
PheGenIrs121908515
Biobankrs121908515
1000 genomesrs121908515
hgdprs121908515
ensemblrs121908515
geneviewrs121908515
scholarrs121908515
googlers121908515
pharmgkbrs121908515
gwascentralrs121908515
openSNPrs121908515
23andMers121908515
SNPshotrs121908515
SNPdbers121908515
MSV3drs121908515
GWAS Ctlgrs121908515
GMAF0.002755
Max Magnitude0
OMIM604277
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908515(T;T)
Alt rs121908515(T;T)
Reference Rs121908515(C;C)
Significance Other
Disease Spastic paraplegia 4 Spastic paraplegia 4 not specified Spastic Paraplegia not provided
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, modifier of Spastic paraplegia 4, autosomal dominant not specified Spastic Paraplegia, Dominant not provided
Reversed 0
HGVS NC_000002.11:g.32289031C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006025.4, RCV000197924.3, RCV000368675.2, RCV000372361.1, RCV000440604.1,