rs149003934

Orientation

plus

Stabilized

plus

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

Make rs149003934(C;T)

Make rs149003934(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44573595

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs149003934
dbSNP (classic)	rs149003934
ClinGen	rs149003934
ebi	rs149003934
HLI	rs149003934
Exac	rs149003934
Gnomad	rs149003934
Varsome	rs149003934
LitVar	rs149003934
Map	rs149003934
PheGenI	rs149003934
Biobank	rs149003934
1000 genomes	rs149003934
hgdp	rs149003934
ensembl	rs149003934
geneview	rs149003934
scholar	rs149003934
google	rs149003934
pharmgkb	rs149003934
gwascentral	rs149003934
openSNP	rs149003934
23andMe	rs149003934
SNPshot	rs149003934
SNPdbe	rs149003934
MSV3d	rs149003934
GWAS Ctlg	rs149003934

Max Magnitude

0

ClinVar
Risk	rs149003934(T;T)
Alt	rs149003934(T;T)
Reference	Rs149003934(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	0
HGVS	NC_000015.9:g.44865793C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034242.2,

[PMID 19196735] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.