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rs387907288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907288(A;A)
Make rs387907288(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57569275
GeneKIF5A
is asnp
is mentioned by
dbSNPrs387907288
dbSNP (classic)rs387907288
ClinGenrs387907288
ebirs387907288
HLIrs387907288
Exacrs387907288
Gnomadrs387907288
Varsomers387907288
LitVarrs387907288
Maprs387907288
PheGenIrs387907288
Biobankrs387907288
1000 genomesrs387907288
hgdprs387907288
ensemblrs387907288
geneviewrs387907288
scholarrs387907288
googlers387907288
pharmgkbrs387907288
gwascentralrs387907288
openSNPrs387907288
23andMers387907288
SNPshotrs387907288
SNPdbers387907288
MSV3drs387907288
GWAS Ctlgrs387907288
Max Magnitude0
ClinVar
Risk rs387907288(A;A)
Alt rs387907288(A;A)
Reference Rs387907288(G;G)
Significance Pathogenic
Disease Spastic paraplegia 10
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10
Reversed 0
HGVS NC_000012.11:g.57963058G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030761.4,