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rs587778798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587778798(-;C)
Make rs587778798(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240718111
GeneKIF1A
is asnp
is mentioned by
dbSNPrs587778798
dbSNP (classic)rs587778798
ClinGenrs587778798
ebirs587778798
HLIrs587778798
Exacrs587778798
Gnomadrs587778798
Varsomers587778798
LitVarrs587778798
Maprs587778798
PheGenIrs587778798
Biobankrs587778798
1000 genomesrs587778798
hgdprs587778798
ensemblrs587778798
geneviewrs587778798
scholarrs587778798
googlers587778798
pharmgkbrs587778798
gwascentralrs587778798
openSNPrs587778798
23andMers587778798
SNPshotrs587778798
SNPdbers587778798
MSV3drs587778798
GWAS Ctlgrs587778798
Max Magnitude0
ClinVar
Risk rs587778798(C;C)
Alt rs587778798(C;C)
Reference Rs587778798(-;-)
Significance Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene KIF1A
CLNDBN Hereditary sensory and autonomic neuropathy type IIA
Reversed 1
HGVS NC_000002.11:g.241657529dupG
CLNSRC
CLNACC RCV000056120.1,