rs312262743

Orientation

minus

Stabilized

minus

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

Make rs312262743(C;C)

Make rs312262743(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44622219

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262743
dbSNP (classic)	rs312262743
ClinGen	rs312262743
ebi	rs312262743
HLI	rs312262743
Exac	rs312262743
Gnomad	rs312262743
Varsome	rs312262743
LitVar	rs312262743
Map	rs312262743
PheGenI	rs312262743
Biobank	rs312262743
1000 genomes	rs312262743
hgdp	rs312262743
ensembl	rs312262743
geneview	rs312262743
scholar	rs312262743
google	rs312262743
pharmgkb	rs312262743
gwascentral	rs312262743
openSNP	rs312262743
23andMe	rs312262743
SNPshot	rs312262743
SNPdbe	rs312262743
MSV3d	rs312262743
GWAS Ctlg	rs312262743

Max Magnitude

0

ClinVar
Risk	rs312262743(A;A) rs312262743(C;C)
Alt	rs312262743(A;A) rs312262743(C;C)
Reference	Rs312262743(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.44914417C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034191.2,

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