rs312262737

Orientation

minus

Stabilized

minus

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

Make rs312262737(A;A)

Make rs312262737(A;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44626429

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262737
dbSNP (classic)	rs312262737
ClinGen	rs312262737
ebi	rs312262737
HLI	rs312262737
Exac	rs312262737
Gnomad	rs312262737
Varsome	rs312262737
LitVar	rs312262737
Map	rs312262737
PheGenI	rs312262737
Biobank	rs312262737
1000 genomes	rs312262737
hgdp	rs312262737
ensembl	rs312262737
geneview	rs312262737
scholar	rs312262737
google	rs312262737
pharmgkb	rs312262737
gwascentral	rs312262737
openSNP	rs312262737
23andMe	rs312262737
SNPshot	rs312262737
SNPdbe	rs312262737
MSV3d	rs312262737
GWAS Ctlg	rs312262737

Max Magnitude

0

ClinVar
Risk	rs312262737(A;A) rs312262737(T;T)
Alt	rs312262737(A;A) rs312262737(T;T)
Reference	Rs312262737(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 11 Spastic Paraplegia not provided
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive Spastic Paraplegia, Recessive not provided
Reversed	1
HGVS	NC_000015.9:g.44918627G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034186.2, RCV000311835.1, RCV000414282.1,

[PMID 20390432] Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.