rs312262732

Orientation

minus

Stabilized

minus

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

Make rs312262732(C;G)

Make rs312262732(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44633561

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262732
dbSNP (classic)	rs312262732
ClinGen	rs312262732
ebi	rs312262732
HLI	rs312262732
Exac	rs312262732
Gnomad	rs312262732
Varsome	rs312262732
LitVar	rs312262732
Map	rs312262732
PheGenI	rs312262732
Biobank	rs312262732
1000 genomes	rs312262732
hgdp	rs312262732
ensembl	rs312262732
geneview	rs312262732
scholar	rs312262732
google	rs312262732
pharmgkb	rs312262732
gwascentral	rs312262732
openSNP	rs312262732
23andMe	rs312262732
SNPshot	rs312262732
SNPdbe	rs312262732
MSV3d	rs312262732
GWAS Ctlg	rs312262732

Max Magnitude

0

ClinVar
Risk	rs312262732(G;G)
Alt	rs312262732(G;G)
Reference	Rs312262732(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44925759G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034180.2,

[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.