rs312262758

Orientation

minus

Stabilized

minus

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

Make rs312262758(A;A)

Make rs312262758(A;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44596899

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262758
dbSNP (classic)	rs312262758
ClinGen	rs312262758
ebi	rs312262758
HLI	rs312262758
Exac	rs312262758
Gnomad	rs312262758
Varsome	rs312262758
LitVar	rs312262758
Map	rs312262758
PheGenI	rs312262758
Biobank	rs312262758
1000 genomes	rs312262758
hgdp	rs312262758
ensembl	rs312262758
geneview	rs312262758
scholar	rs312262758
google	rs312262758
pharmgkb	rs312262758
gwascentral	rs312262758
openSNP	rs312262758
23andMe	rs312262758
SNPshot	rs312262758
SNPdbe	rs312262758
MSV3d	rs312262758
GWAS Ctlg	rs312262758

Max Magnitude

0

ClinVar
Risk	rs312262758(A;A)
Alt	rs312262758(A;A)
Reference	Rs312262758(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.44889097A>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034214.2,

[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.