rs312262755

Orientation

minus

Stabilized

minus

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

Make rs312262755(-;T)

Make rs312262755(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44600488

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262755
dbSNP (classic)	rs312262755
ClinGen	rs312262755
ebi	rs312262755
HLI	rs312262755
Exac	rs312262755
Gnomad	rs312262755
Varsome	rs312262755
LitVar	rs312262755
Map	rs312262755
PheGenI	rs312262755
Biobank	rs312262755
1000 genomes	rs312262755
hgdp	rs312262755
ensembl	rs312262755
geneview	rs312262755
scholar	rs312262755
google	rs312262755
pharmgkb	rs312262755
gwascentral	rs312262755
openSNP	rs312262755
23andMe	rs312262755
SNPshot	rs312262755
SNPdbe	rs312262755
MSV3d	rs312262755
GWAS Ctlg	rs312262755

Max Magnitude

0

ClinVar
Risk	rs312262755(T;T)
Alt	rs312262755(T;T)
Reference	Rs312262755(-;-)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44892686_44892687insA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034210.2,

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