rs312262734

Orientation

minus

Stabilized

minus

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

Make rs312262734(-;-)

Make rs312262734(-;AAGT)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44633499

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262734
dbSNP (classic)	rs312262734
ClinGen	rs312262734
ebi	rs312262734
HLI	rs312262734
Exac	rs312262734
Gnomad	rs312262734
Varsome	rs312262734
LitVar	rs312262734
Map	rs312262734
PheGenI	rs312262734
Biobank	rs312262734
1000 genomes	rs312262734
hgdp	rs312262734
ensembl	rs312262734
geneview	rs312262734
scholar	rs312262734
google	rs312262734
pharmgkb	rs312262734
gwascentral	rs312262734
openSNP	rs312262734
23andMe	rs312262734
SNPshot	rs312262734
SNPdbe	rs312262734
MSV3d	rs312262734
GWAS Ctlg	rs312262734

Max Magnitude

0

ClinVar
Risk	rs312262734(-;-)
Alt	rs312262734(-;-)
Reference	Rs312262734(AAGT;AAGT)
Significance	Other
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44925697_44925700delACTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034182.2,

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