rs312262769

Orientation

minus

Stabilized

minus

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

Make rs312262769(-;-)

Make rs312262769(-;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44583977

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262769
dbSNP (classic)	rs312262769
ClinGen	rs312262769
ebi	rs312262769
HLI	rs312262769
Exac	rs312262769
Gnomad	rs312262769
Varsome	rs312262769
LitVar	rs312262769
Map	rs312262769
PheGenI	rs312262769
Biobank	rs312262769
1000 genomes	rs312262769
hgdp	rs312262769
ensembl	rs312262769
geneview	rs312262769
scholar	rs312262769
google	rs312262769
pharmgkb	rs312262769
gwascentral	rs312262769
openSNP	rs312262769
23andMe	rs312262769
SNPshot	rs312262769
SNPdbe	rs312262769
MSV3d	rs312262769
GWAS Ctlg	rs312262769

Max Magnitude

0

ClinVar
Risk	rs312262769(-;-)
Alt	rs312262769(-;-)
Reference	Rs312262769(T;T)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44876175delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034227.2,

[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.