rs312262726

Orientation

minus

Stabilized

minus

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

Make rs312262726(A;G)

Make rs312262726(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44649013

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262726
dbSNP (classic)	rs312262726
ClinGen	rs312262726
ebi	rs312262726
HLI	rs312262726
Exac	rs312262726
Gnomad	rs312262726
Varsome	rs312262726
LitVar	rs312262726
Map	rs312262726
PheGenI	rs312262726
Biobank	rs312262726
1000 genomes	rs312262726
hgdp	rs312262726
ensembl	rs312262726
geneview	rs312262726
scholar	rs312262726
google	rs312262726
pharmgkb	rs312262726
gwascentral	rs312262726
openSNP	rs312262726
23andMe	rs312262726
SNPshot	rs312262726
SNPdbe	rs312262726
MSV3d	rs312262726
GWAS Ctlg	rs312262726

Max Magnitude

0

ClinVar
Risk	rs312262726(G;G)
Alt	rs312262726(G;G)
Reference	Rs312262726(A;A)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44941211T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034173.2,

[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.