rs312262772

Orientation

minus

Stabilized

minus

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

Make rs312262772(C;G)

Make rs312262772(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44575038

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262772
dbSNP (classic)	rs312262772
ClinGen	rs312262772
ebi	rs312262772
HLI	rs312262772
Exac	rs312262772
Gnomad	rs312262772
Varsome	rs312262772
LitVar	rs312262772
Map	rs312262772
PheGenI	rs312262772
Biobank	rs312262772
1000 genomes	rs312262772
hgdp	rs312262772
ensembl	rs312262772
geneview	rs312262772
scholar	rs312262772
google	rs312262772
pharmgkb	rs312262772
gwascentral	rs312262772
openSNP	rs312262772
23andMe	rs312262772
SNPshot	rs312262772
SNPdbe	rs312262772
MSV3d	rs312262772
GWAS Ctlg	rs312262772

Max Magnitude

0

ClinVar
Risk	rs312262772(G;G)
Alt	rs312262772(G;G)
Reference	Rs312262772(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.44867236G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034231.2,

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