rs1057518760

Orientation

minus

Stabilized

minus

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

Make rs1057518760(A;A)

Make rs1057518760(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

240788182

Gene

KIF1A

is a	snp
is	mentioned by
dbSNP	rs1057518760
dbSNP (classic)	rs1057518760
ClinGen	rs1057518760
ebi	rs1057518760
HLI	rs1057518760
Exac	rs1057518760
Gnomad	rs1057518760
Varsome	rs1057518760
LitVar	rs1057518760
Map	rs1057518760
PheGenI	rs1057518760
Biobank	rs1057518760
1000 genomes	rs1057518760
hgdp	rs1057518760
ensembl	rs1057518760
geneview	rs1057518760
scholar	rs1057518760
google	rs1057518760
pharmgkb	rs1057518760
gwascentral	rs1057518760
openSNP	rs1057518760
23andMe	rs1057518760
SNPshot	rs1057518760
SNPdbe	rs1057518760
MSV3d	rs1057518760
GWAS Ctlg	rs1057518760

Max Magnitude

0

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,