rs312262710

Orientation

minus

Stabilized

minus

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

Make rs312262710(G;T)

Make rs312262710(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44660606

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262710
dbSNP (classic)	rs312262710
ClinGen	rs312262710
ebi	rs312262710
HLI	rs312262710
Exac	rs312262710
Gnomad	rs312262710
Varsome	rs312262710
LitVar	rs312262710
Map	rs312262710
PheGenI	rs312262710
Biobank	rs312262710
1000 genomes	rs312262710
hgdp	rs312262710
ensembl	rs312262710
geneview	rs312262710
scholar	rs312262710
google	rs312262710
pharmgkb	rs312262710
gwascentral	rs312262710
openSNP	rs312262710
23andMe	rs312262710
SNPshot	rs312262710
SNPdbe	rs312262710
MSV3d	rs312262710
GWAS Ctlg	rs312262710

Max Magnitude

0

ClinVar
Risk	rs312262710(T;T)
Alt	rs312262710(T;T)
Reference	Rs312262710(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.44952804C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034196.2,

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