rs312262735

Orientation

minus

Stabilized

minus

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

Make rs312262735(-;A)

Make rs312262735(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44629286

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262735
dbSNP (classic)	rs312262735
ClinGen	rs312262735
ebi	rs312262735
HLI	rs312262735
Exac	rs312262735
Gnomad	rs312262735
Varsome	rs312262735
LitVar	rs312262735
Map	rs312262735
PheGenI	rs312262735
Biobank	rs312262735
1000 genomes	rs312262735
hgdp	rs312262735
ensembl	rs312262735
geneview	rs312262735
scholar	rs312262735
google	rs312262735
pharmgkb	rs312262735
gwascentral	rs312262735
openSNP	rs312262735
23andMe	rs312262735
SNPshot	rs312262735
SNPdbe	rs312262735
MSV3d	rs312262735
GWAS Ctlg	rs312262735

Max Magnitude

0

ClinVar
Risk	rs312262735(A;A)
Alt	rs312262735(A;A)
Reference	Rs312262735(-;-)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44921484_44921485insT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034183.2,

[PMID 18337587] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.