rs312262788

Orientation

minus

Stabilized

minus

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

Make rs312262788(-;T)

Make rs312262788(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44564668

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262788
dbSNP (classic)	rs312262788
ClinGen	rs312262788
ebi	rs312262788
HLI	rs312262788
Exac	rs312262788
Gnomad	rs312262788
Varsome	rs312262788
LitVar	rs312262788
Map	rs312262788
PheGenI	rs312262788
Biobank	rs312262788
1000 genomes	rs312262788
hgdp	rs312262788
ensembl	rs312262788
geneview	rs312262788
scholar	rs312262788
google	rs312262788
pharmgkb	rs312262788
gwascentral	rs312262788
openSNP	rs312262788
23andMe	rs312262788
SNPshot	rs312262788
SNPdbe	rs312262788
MSV3d	rs312262788
GWAS Ctlg	rs312262788

Max Magnitude

0

ClinVar
Risk	rs312262788(T;T)
Alt	rs312262788(T;T)
Reference	Rs312262788(-;-)
Significance	Pathogenic
Disease	Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5
Reversed	1
HGVS	NC_000015.9:g.44856867dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034259.3, RCV000195138.2,

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