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rs121909484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909484(G;G)
Make rs121909484(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position155853659
GeneLOC105374174, SLC33A1
is asnp
is mentioned by
dbSNPrs121909484
dbSNP (classic)rs121909484
ClinGenrs121909484
ebirs121909484
HLIrs121909484
Exacrs121909484
Gnomadrs121909484
Varsomers121909484
LitVarrs121909484
Maprs121909484
PheGenIrs121909484
Biobankrs121909484
1000 genomesrs121909484
hgdprs121909484
ensemblrs121909484
geneviewrs121909484
scholarrs121909484
googlers121909484
pharmgkbrs121909484
gwascentralrs121909484
openSNPrs121909484
23andMers121909484
SNPshotrs121909484
SNPdbers121909484
MSV3drs121909484
GWAS Ctlgrs121909484
Max Magnitude0
OMIM603690
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909484(G;G)
Alt rs121909484(G;G)
Reference Rs121909484(T;T)
Significance Pathogenic
Disease Spastic paraplegia 42
Variation info
Gene SLC33A1
CLNDBN Spastic paraplegia 42, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.155571448A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006506.5,