rs312262738

Orientation

minus

Stabilized

minus

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

Make rs312262738(-;T)

Make rs312262738(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44626411

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262738
dbSNP (classic)	rs312262738
ClinGen	rs312262738
ebi	rs312262738
HLI	rs312262738
Exac	rs312262738
Gnomad	rs312262738
Varsome	rs312262738
LitVar	rs312262738
Map	rs312262738
PheGenI	rs312262738
Biobank	rs312262738
1000 genomes	rs312262738
hgdp	rs312262738
ensembl	rs312262738
geneview	rs312262738
scholar	rs312262738
google	rs312262738
pharmgkb	rs312262738
gwascentral	rs312262738
openSNP	rs312262738
23andMe	rs312262738
SNPshot	rs312262738
SNPdbe	rs312262738
MSV3d	rs312262738
GWAS Ctlg	rs312262738

Max Magnitude

0

ClinVar
Risk	rs312262738(T;T)
Alt	rs312262738(T;T)
Reference	Rs312262738(-;-)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44918610dupA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034187.3,

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