rs200793464

Orientation

plus

Stabilized

plus

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

Make rs200793464(A;A)

Make rs200793464(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44574934

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs200793464
dbSNP (classic)	rs200793464
ClinGen	rs200793464
ebi	rs200793464
HLI	rs200793464
Exac	rs200793464
Gnomad	rs200793464
Varsome	rs200793464
LitVar	rs200793464
Map	rs200793464
PheGenI	rs200793464
Biobank	rs200793464
1000 genomes	rs200793464
hgdp	rs200793464
ensembl	rs200793464
geneview	rs200793464
scholar	rs200793464
google	rs200793464
pharmgkb	rs200793464
gwascentral	rs200793464
openSNP	rs200793464
23andMe	rs200793464
SNPshot	rs200793464
SNPdbe	rs200793464
MSV3d	rs200793464
GWAS Ctlg	rs200793464

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs200793464(A;A)
Alt	rs200793464(A;A)
Reference	Rs200793464(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 not provided
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5 not provided
Reversed	0
HGVS	NC_000015.9:g.44867132G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034234.3, RCV000194146.2, RCV000255514.1,

[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.