rs1057517673

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057517673(-;-)

Make rs1057517673(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

57581881

Gene

KIF5A

is a	snp
is	mentioned by
dbSNP	rs1057517673
dbSNP (classic)	rs1057517673
ClinGen	rs1057517673
ebi	rs1057517673
HLI	rs1057517673
Exac	rs1057517673
Gnomad	rs1057517673
Varsome	rs1057517673
LitVar	rs1057517673
Map	rs1057517673
PheGenI	rs1057517673
Biobank	rs1057517673
1000 genomes	rs1057517673
hgdp	rs1057517673
ensembl	rs1057517673
geneview	rs1057517673
scholar	rs1057517673
google	rs1057517673
pharmgkb	rs1057517673
gwascentral	rs1057517673
openSNP	rs1057517673
23andMe	rs1057517673
SNPshot	rs1057517673
SNPdbe	rs1057517673
MSV3d	rs1057517673
GWAS Ctlg	rs1057517673

Max Magnitude

0

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,