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rs1057518760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518760(A;A)
Make rs1057518760(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position240788182
GeneKIF1A
is asnp
is mentioned by
dbSNPrs1057518760
dbSNP (old)rs1057518760
ClinGenrs1057518760
ebirs1057518760
HLIrs1057518760
Exacrs1057518760
Gnomadrs1057518760
Varsomers1057518760
LitVarrs1057518760
Maprs1057518760
PheGenIrs1057518760
Biobankrs1057518760
1000 genomesrs1057518760
hgdprs1057518760
ensemblrs1057518760
gopubmedrs1057518760
geneviewrs1057518760
scholarrs1057518760
googlers1057518760
pharmgkbrs1057518760
gwascentralrs1057518760
openSNPrs1057518760
23andMers1057518760
23andMe allrs1057518760
SNPshotrs1057518760
SNPdbers1057518760
MSV3drs1057518760
GWAS Ctlgrs1057518760
Max Magnitude0
ClinVar
Risk rs1057518760(A;A)
Alt rs1057518760(A;A)
Reference Rs1057518760(G;G)
Significance Probable-Pathogenic
Disease Clonus Hyperreflexia Lower limb hyperreflexia Spastic paraplegia
Variation info
Gene KIF1A
CLNDBN Clonus Hyperreflexia Lower limb hyperreflexia Spastic paraplegia
Reversed 1
HGVS NC_000002.11:g.241727599C>T
CLNSRC
CLNACC RCV000414911.1,