rs1057519078

Orientation

plus

Stabilized

plus

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

Make rs1057519078(-;-)

Make rs1057519078(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

57581513

Gene

KIF5A

is a	snp
is	mentioned by
dbSNP	rs1057519078
dbSNP (classic)	rs1057519078
ClinGen	rs1057519078
ebi	rs1057519078
HLI	rs1057519078
Exac	rs1057519078
Gnomad	rs1057519078
Varsome	rs1057519078
LitVar	rs1057519078
Map	rs1057519078
PheGenI	rs1057519078
Biobank	rs1057519078
1000 genomes	rs1057519078
hgdp	rs1057519078
ensembl	rs1057519078
geneview	rs1057519078
scholar	rs1057519078
google	rs1057519078
pharmgkb	rs1057519078
gwascentral	rs1057519078
openSNP	rs1057519078
23andMe	rs1057519078
SNPshot	rs1057519078
SNPdbe	rs1057519078
MSV3d	rs1057519078
GWAS Ctlg	rs1057519078

Max Magnitude

0

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,