rs312262717

Orientation

minus

Stabilized

minus

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

Make rs312262717(-;-)

Make rs312262717(-;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44659104

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262717
dbSNP (classic)	rs312262717
ClinGen	rs312262717
ebi	rs312262717
HLI	rs312262717
Exac	rs312262717
Gnomad	rs312262717
Varsome	rs312262717
LitVar	rs312262717
Map	rs312262717
PheGenI	rs312262717
Biobank	rs312262717
1000 genomes	rs312262717
hgdp	rs312262717
ensembl	rs312262717
geneview	rs312262717
scholar	rs312262717
google	rs312262717
pharmgkb	rs312262717
gwascentral	rs312262717
openSNP	rs312262717
23andMe	rs312262717
SNPshot	rs312262717
SNPdbe	rs312262717
MSV3d	rs312262717
GWAS Ctlg	rs312262717

Max Magnitude

0

ClinVar
Risk	rs312262717(-;-)
Alt	rs312262717(-;-)
Reference	Rs312262717(T;T)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44951302delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034244.2,

[PMID 19194956] SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.