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rs121434442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434442(C;T)
Make rs121434442(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57569274
GeneKIF5A
is asnp
is mentioned by
dbSNPrs121434442
ebirs121434442
HLIrs121434442
Exacrs121434442
Varsomers121434442
Maprs121434442
PheGenIrs121434442
hapmaprs121434442
1000 genomesrs121434442
hgdprs121434442
ensemblrs121434442
gopubmedrs121434442
geneviewrs121434442
scholarrs121434442
googlers121434442
pharmgkbrs121434442
gwascentralrs121434442
openSNPrs121434442
23andMers121434442
23andMe allrs121434442
SNP Nexus

SNPshotrs121434442
SNPdbers121434442
MSV3drs121434442
GWAS Ctlgrs121434442
Max Magnitude0
OMIM602821
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434442(T;T)
Alt rs121434442(T;T)
Reference Rs121434442(C;C)
Significance Pathogenic
Disease Spastic paraplegia 10
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10
Reversed 0
HGVS NC_000012.11:g.57963057C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007209.3,