rs312262713

Orientation

minus

Stabilized

minus

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

Make rs312262713(-;-)

Make rs312262713(-;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44660476

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262713
dbSNP (classic)	rs312262713
ClinGen	rs312262713
ebi	rs312262713
HLI	rs312262713
Exac	rs312262713
Gnomad	rs312262713
Varsome	rs312262713
LitVar	rs312262713
Map	rs312262713
PheGenI	rs312262713
Biobank	rs312262713
1000 genomes	rs312262713
hgdp	rs312262713
ensembl	rs312262713
geneview	rs312262713
scholar	rs312262713
google	rs312262713
pharmgkb	rs312262713
gwascentral	rs312262713
openSNP	rs312262713
23andMe	rs312262713
SNPshot	rs312262713
SNPdbe	rs312262713
MSV3d	rs312262713
GWAS Ctlg	rs312262713

Max Magnitude

0

ClinVar
Risk	rs312262713(-;-)
Alt	rs312262713(-;-)
Reference	Rs312262713(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44952674delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034213.2,

[PMID 18717728] Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).