rs312262764

Orientation

minus

Stabilized

minus

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

Make rs312262764(-;-)

Make rs312262764(-;AG)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44584225

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262764
dbSNP (classic)	rs312262764
ClinGen	rs312262764
ebi	rs312262764
HLI	rs312262764
Exac	rs312262764
Gnomad	rs312262764
Varsome	rs312262764
LitVar	rs312262764
Map	rs312262764
PheGenI	rs312262764
Biobank	rs312262764
1000 genomes	rs312262764
hgdp	rs312262764
ensembl	rs312262764
geneview	rs312262764
scholar	rs312262764
google	rs312262764
pharmgkb	rs312262764
gwascentral	rs312262764
openSNP	rs312262764
23andMe	rs312262764
SNPshot	rs312262764
SNPdbe	rs312262764
MSV3d	rs312262764
GWAS Ctlg	rs312262764

Max Magnitude

0

ClinVar
Risk	rs312262764(-;-)
Alt	rs312262764(-;-)
Reference	Rs312262764(AG;AG)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44876423_44876424delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034269.2,

[PMID 18337587] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.