rs312262746

Orientation

minus

Stabilized

minus

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

Make rs312262746(A;A)

Make rs312262746(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44620327

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262746
dbSNP (classic)	rs312262746
ClinGen	rs312262746
ebi	rs312262746
HLI	rs312262746
Exac	rs312262746
Gnomad	rs312262746
Varsome	rs312262746
LitVar	rs312262746
Map	rs312262746
PheGenI	rs312262746
Biobank	rs312262746
1000 genomes	rs312262746
hgdp	rs312262746
ensembl	rs312262746
geneview	rs312262746
scholar	rs312262746
google	rs312262746
pharmgkb	rs312262746
gwascentral	rs312262746
openSNP	rs312262746
23andMe	rs312262746
SNPshot	rs312262746
SNPdbe	rs312262746
MSV3d	rs312262746
GWAS Ctlg	rs312262746

Max Magnitude

0

ClinVar
Risk	rs312262746(A;A)
Alt	rs312262746(A;A)
Reference	Rs312262746(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.44912525C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034197.2,

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