rs147713329

Orientation

plus

Stabilized

plus

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

Make rs147713329(C;C)

Make rs147713329(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44573661

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs147713329
dbSNP (classic)	rs147713329
ClinGen	rs147713329
ebi	rs147713329
HLI	rs147713329
Exac	rs147713329
Gnomad	rs147713329
Varsome	rs147713329
LitVar	rs147713329
Map	rs147713329
PheGenI	rs147713329
Biobank	rs147713329
1000 genomes	rs147713329
hgdp	rs147713329
ensembl	rs147713329
geneview	rs147713329
scholar	rs147713329
google	rs147713329
pharmgkb	rs147713329
gwascentral	rs147713329
openSNP	rs147713329
23andMe	rs147713329
SNPshot	rs147713329
SNPdbe	rs147713329
MSV3d	rs147713329
GWAS Ctlg	rs147713329

Max Magnitude

0

ClinVar
Risk	rs147713329(A;A) rs147713329(C;C) rs147713329(T;T)
Alt	rs147713329(A;A) rs147713329(C;C) rs147713329(T;T)
Reference	Rs147713329(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	0
HGVS	NC_000015.9:g.44865859G>A; NC_000015.9:g.44865859G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034241.2, RCV000205403.1,

[PMID 18408091] Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.

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