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rs1057519078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519078(-;-)
Make rs1057519078(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position57581513
GeneKIF5A
is asnp
is mentioned by
dbSNPrs1057519078
dbSNP (old)rs1057519078
ClinGenrs1057519078
ebirs1057519078
HLIrs1057519078
Exacrs1057519078
Gnomadrs1057519078
Varsomers1057519078
LitVarrs1057519078
Maprs1057519078
PheGenIrs1057519078
Biobankrs1057519078
1000 genomesrs1057519078
hgdprs1057519078
ensemblrs1057519078
gopubmedrs1057519078
geneviewrs1057519078
scholarrs1057519078
googlers1057519078
pharmgkbrs1057519078
gwascentralrs1057519078
openSNPrs1057519078
23andMers1057519078
23andMe allrs1057519078
SNPshotrs1057519078
SNPdbers1057519078
MSV3drs1057519078
GWAS Ctlgrs1057519078
Max Magnitude0
ClinVar
Risk rs1057519078(-;-)
Alt rs1057519078(-;-)
Reference Rs1057519078(C;C)
Significance Pathogenic
Disease Myoclonus
Variation info
Gene KIF5A
CLNDBN Myoclonus, intractable, neonatal
Reversed 0
HGVS NC_000012.11:g.57975296delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000412536.1,