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rs121434444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434444(C;T)
Make rs121434444(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57569648
GeneKIF5A
is asnp
is mentioned by
dbSNPrs121434444
ebirs121434444
HLIrs121434444
Exacrs121434444
Varsomers121434444
Maprs121434444
PheGenIrs121434444
hapmaprs121434444
1000 genomesrs121434444
hgdprs121434444
ensemblrs121434444
gopubmedrs121434444
geneviewrs121434444
scholarrs121434444
googlers121434444
pharmgkbrs121434444
gwascentralrs121434444
openSNPrs121434444
23andMers121434444
23andMe allrs121434444
SNP Nexus

SNPshotrs121434444
SNPdbers121434444
MSV3drs121434444
GWAS Ctlgrs121434444
GMAF0.0004591
Max Magnitude0
OMIM602821
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434444(T;T)
Alt rs121434444(T;T)
Reference rs121434444(C;C)
Significance Pathogenic
Disease Spastic paraplegia 10
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10
Reversed 0
HGVS NC_000012.11:g.57963431C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007211.2,