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rs387907285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907285(A;A)
Make rs387907285(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57568999
GeneKIF5A
is asnp
is mentioned by
dbSNPrs387907285
dbSNP (classic)rs387907285
ClinGenrs387907285
ebirs387907285
HLIrs387907285
Exacrs387907285
Gnomadrs387907285
Varsomers387907285
LitVarrs387907285
Maprs387907285
PheGenIrs387907285
Biobankrs387907285
1000 genomesrs387907285
hgdprs387907285
ensemblrs387907285
geneviewrs387907285
scholarrs387907285
googlers387907285
pharmgkbrs387907285
gwascentralrs387907285
openSNPrs387907285
23andMers387907285
SNPshotrs387907285
SNPdbers387907285
MSV3drs387907285
GWAS Ctlgrs387907285
Max Magnitude0
ClinVar
Risk rs387907285(A;A)
Alt rs387907285(A;A)
Reference Rs387907285(G;G)
Significance Pathogenic
Disease Spastic paraplegia 10 Spastic paraplegia
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10 Spastic paraplegia
Reversed 0
HGVS NC_000012.11:g.57962782G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030758.3, RCV000205648.1,