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rs121434441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434441(A;G)
Make rs121434441(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57569015
GeneKIF5A
is asnp
is mentioned by
dbSNPrs121434441
dbSNP (classic)rs121434441
ClinGenrs121434441
ebirs121434441
HLIrs121434441
Exacrs121434441
Gnomadrs121434441
Varsomers121434441
LitVarrs121434441
Maprs121434441
PheGenIrs121434441
Biobankrs121434441
1000 genomesrs121434441
hgdprs121434441
ensemblrs121434441
geneviewrs121434441
scholarrs121434441
googlers121434441
pharmgkbrs121434441
gwascentralrs121434441
openSNPrs121434441
23andMers121434441
SNPshotrs121434441
SNPdbers121434441
MSV3drs121434441
GWAS Ctlgrs121434441
Max Magnitude0
OMIM602821
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434441(G;G)
Alt rs121434441(G;G)
Reference Rs121434441(A;A)
Significance Pathogenic
Disease Spastic paraplegia 10
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10
Reversed 0
HGVS NC_000012.11:g.57962798A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007208.2,