rs312262711

Orientation

minus

Stabilized

minus

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

Make rs312262711(G;T)

Make rs312262711(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44660525

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262711
dbSNP (classic)	rs312262711
ClinGen	rs312262711
ebi	rs312262711
HLI	rs312262711
Exac	rs312262711
Gnomad	rs312262711
Varsome	rs312262711
LitVar	rs312262711
Map	rs312262711
PheGenI	rs312262711
Biobank	rs312262711
1000 genomes	rs312262711
hgdp	rs312262711
ensembl	rs312262711
geneview	rs312262711
scholar	rs312262711
google	rs312262711
pharmgkb	rs312262711
gwascentral	rs312262711
openSNP	rs312262711
23andMe	rs312262711
SNPshot	rs312262711
SNPdbe	rs312262711
MSV3d	rs312262711
GWAS Ctlg	rs312262711

Max Magnitude

0

ClinVar
Risk	rs312262711(T;T)
Alt	rs312262711(T;T)
Reference	Rs312262711(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44952723C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034207.2,

[PMID 19196735] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.