rs1057518874

Orientation

minus

Stabilized

minus

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

Make rs1057518874(G;T)

Make rs1057518874(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

44598738

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs1057518874
dbSNP (classic)	rs1057518874
ClinGen	rs1057518874
ebi	rs1057518874
HLI	rs1057518874
Exac	rs1057518874
Gnomad	rs1057518874
Varsome	rs1057518874
LitVar	rs1057518874
Map	rs1057518874
PheGenI	rs1057518874
Biobank	rs1057518874
1000 genomes	rs1057518874
hgdp	rs1057518874
ensembl	rs1057518874
geneview	rs1057518874
scholar	rs1057518874
google	rs1057518874
pharmgkb	rs1057518874
gwascentral	rs1057518874
openSNP	rs1057518874
23andMe	rs1057518874
SNPshot	rs1057518874
SNPdbe	rs1057518874
MSV3d	rs1057518874
GWAS Ctlg	rs1057518874

Max Magnitude

0

ClinVar
Risk	rs1057518874(T;T)
Alt	rs1057518874(T;T)
Reference	Rs1057518874(G;G)
Significance	Probable-Pathogenic
Disease	Difficulty walking Gait disturbance Generalized hyperreflexia Spastic paraparesis
Variation	info
Gene	SPG11
CLNDBN	Difficulty walking Gait disturbance Generalized hyperreflexia Spastic paraparesis
Reversed	1
HGVS	NC_000015.9:g.44890936C>A
CLNSRC
CLNACC	RCV000415188.1,