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rs121434443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434443(A;G)
Make rs121434443(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57569263
GeneKIF5A
is asnp
is mentioned by
dbSNPrs121434443
dbSNP (classic)rs121434443
ClinGenrs121434443
ebirs121434443
HLIrs121434443
Exacrs121434443
Gnomadrs121434443
Varsomers121434443
LitVarrs121434443
Maprs121434443
PheGenIrs121434443
Biobankrs121434443
1000 genomesrs121434443
hgdprs121434443
ensemblrs121434443
geneviewrs121434443
scholarrs121434443
googlers121434443
pharmgkbrs121434443
gwascentralrs121434443
openSNPrs121434443
23andMers121434443
SNPshotrs121434443
SNPdbers121434443
MSV3drs121434443
GWAS Ctlgrs121434443
Max Magnitude0
OMIM602821
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434443(G;G)
Alt rs121434443(G;G)
Reference Rs121434443(A;A)
Significance Pathogenic
Disease Spastic paraplegia 10
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10
Reversed 0
HGVS NC_000012.11:g.57963046A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007210.3,