rs312262736

Orientation

minus

Stabilized

minus

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

Make rs312262736(-;-)

Make rs312262736(-;GT)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44629278

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262736
dbSNP (classic)	rs312262736
ClinGen	rs312262736
ebi	rs312262736
HLI	rs312262736
Exac	rs312262736
Gnomad	rs312262736
Varsome	rs312262736
LitVar	rs312262736
Map	rs312262736
PheGenI	rs312262736
Biobank	rs312262736
1000 genomes	rs312262736
hgdp	rs312262736
ensembl	rs312262736
geneview	rs312262736
scholar	rs312262736
google	rs312262736
pharmgkb	rs312262736
gwascentral	rs312262736
openSNP	rs312262736
23andMe	rs312262736
SNPshot	rs312262736
SNPdbe	rs312262736
MSV3d	rs312262736
GWAS Ctlg	rs312262736

Max Magnitude

0

ClinVar
Risk	rs312262736(-;-)
Alt	rs312262736(-;-)
Reference	Rs312262736(GT;GT)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44921476_44921477delAC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034184.2,

[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.