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rs690016545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs690016545(A;A)
Make rs690016545(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position57567598
GeneKIF5A
is asnp
is mentioned by
dbSNPrs690016545
dbSNP (classic)rs690016545
ClinGenrs690016545
ebirs690016545
HLIrs690016545
Exacrs690016545
Gnomadrs690016545
Varsomers690016545
LitVarrs690016545
Maprs690016545
PheGenIrs690016545
Biobankrs690016545
1000 genomesrs690016545
hgdprs690016545
ensemblrs690016545
geneviewrs690016545
scholarrs690016545
googlers690016545
pharmgkbrs690016545
gwascentralrs690016545
openSNPrs690016545
23andMers690016545
SNPshotrs690016545
SNPdbers690016545
MSV3drs690016545
GWAS Ctlgrs690016545
Max Magnitude0
ClinVar
Risk rs690016545(A;A)
Alt rs690016545(A;A)
Reference Rs690016545(G;G)
Significance Pathogenic
Disease Spastic paraplegia 10
Variation info
Gene KIF5A
CLNDBN Spastic paraplegia 10
Reversed 0
HGVS NC_000012.11:g.57961381G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149510.4,