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rs797045050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045050(A;A)
Make rs797045050(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240797715
GeneKIF1A
is asnp
is mentioned by
dbSNPrs797045050
dbSNP (classic)rs797045050
ClinGenrs797045050
ebirs797045050
HLIrs797045050
Exacrs797045050
Gnomadrs797045050
Varsomers797045050
LitVarrs797045050
Maprs797045050
PheGenIrs797045050
Biobankrs797045050
1000 genomesrs797045050
hgdprs797045050
ensemblrs797045050
geneviewrs797045050
scholarrs797045050
googlers797045050
pharmgkbrs797045050
gwascentralrs797045050
openSNPrs797045050
23andMers797045050
SNPshotrs797045050
SNPdbers797045050
MSV3drs797045050
GWAS Ctlgrs797045050
Max Magnitude0
ClinVar
Risk rs797045050(A;A)
Alt rs797045050(A;A)
Reference Rs797045050(G;G)
Significance Pathogenic
Disease Spastic paraplegia not provided
Variation info
Gene KIF1A
CLNDBN Spastic paraplegia not provided
Reversed 1
HGVS NC_000002.11:g.241737132C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191098.1, RCV000235418.1,