rs312262774

Orientation

minus

Stabilized

minus

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

Make rs312262774(C;T)

Make rs312262774(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44574931

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262774
dbSNP (classic)	rs312262774
ClinGen	rs312262774
ebi	rs312262774
HLI	rs312262774
Exac	rs312262774
Gnomad	rs312262774
Varsome	rs312262774
LitVar	rs312262774
Map	rs312262774
PheGenI	rs312262774
Biobank	rs312262774
1000 genomes	rs312262774
hgdp	rs312262774
ensembl	rs312262774
geneview	rs312262774
scholar	rs312262774
google	rs312262774
pharmgkb	rs312262774
gwascentral	rs312262774
openSNP	rs312262774
23andMe	rs312262774
SNPshot	rs312262774
SNPdbe	rs312262774
MSV3d	rs312262774
GWAS Ctlg	rs312262774

Max Magnitude

0

ClinVar
Risk	rs312262774(T;T)
Alt	rs312262774(T;T)
Reference	Rs312262774(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44867129G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034235.2,

[PMID 18361476] Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.

[PMID 18835492] Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.