rs312262787

Orientation

minus

Stabilized

minus

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

Make rs312262787(-;GGA)

Make rs312262787(GGA;GGA)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44564700

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262787
dbSNP (classic)	rs312262787
ClinGen	rs312262787
ebi	rs312262787
HLI	rs312262787
Exac	rs312262787
Gnomad	rs312262787
Varsome	rs312262787
LitVar	rs312262787
Map	rs312262787
PheGenI	rs312262787
Biobank	rs312262787
1000 genomes	rs312262787
hgdp	rs312262787
ensembl	rs312262787
geneview	rs312262787
scholar	rs312262787
google	rs312262787
pharmgkb	rs312262787
gwascentral	rs312262787
openSNP	rs312262787
23andMe	rs312262787
SNPshot	rs312262787
SNPdbe	rs312262787
MSV3d	rs312262787
GWAS Ctlg	rs312262787

Max Magnitude

0

ClinVar
Risk	rs312262787(GGA;GGA)
Alt	rs312262787(GGA;GGA)
Reference	Rs312262787(-;-)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44856898_44856899insTCC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034256.2,

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