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rs1057517673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517673(-;-)
Make rs1057517673(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position57581881
GeneKIF5A
is asnp
is mentioned by
dbSNPrs1057517673
dbSNP (old)rs1057517673
ClinGenrs1057517673
ebirs1057517673
HLIrs1057517673
Exacrs1057517673
Gnomadrs1057517673
Varsomers1057517673
LitVarrs1057517673
Maprs1057517673
PheGenIrs1057517673
Biobankrs1057517673
1000 genomesrs1057517673
hgdprs1057517673
ensemblrs1057517673
gopubmedrs1057517673
geneviewrs1057517673
scholarrs1057517673
googlers1057517673
pharmgkbrs1057517673
gwascentralrs1057517673
openSNPrs1057517673
23andMers1057517673
23andMe allrs1057517673
SNPshotrs1057517673
SNPdbers1057517673
MSV3drs1057517673
GWAS Ctlgrs1057517673
Max Magnitude0
ClinVar
Risk rs1057517673(-;-)
Alt rs1057517673(-;-)
Reference Rs1057517673(C;C)
Significance Pathogenic
Disease Myoclonus
Variation info
Gene KIF5A
CLNDBN Myoclonus, intractable, neonatal
Reversed 0
HGVS NC_000012.11:g.57975664delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000412656.1,