rs312262754

Orientation

minus

Stabilized

minus

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

Make rs312262754(-;-)

Make rs312262754(-;AT)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44600550

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262754
dbSNP (classic)	rs312262754
ClinGen	rs312262754
ebi	rs312262754
HLI	rs312262754
Exac	rs312262754
Gnomad	rs312262754
Varsome	rs312262754
LitVar	rs312262754
Map	rs312262754
PheGenI	rs312262754
Biobank	rs312262754
1000 genomes	rs312262754
hgdp	rs312262754
ensembl	rs312262754
geneview	rs312262754
scholar	rs312262754
google	rs312262754
pharmgkb	rs312262754
gwascentral	rs312262754
openSNP	rs312262754
23andMe	rs312262754
SNPshot	rs312262754
SNPdbe	rs312262754
MSV3d	rs312262754
GWAS Ctlg	rs312262754

Max Magnitude

0

ClinVar
Risk	rs312262754(-;-)
Alt	rs312262754(-;-)
Reference	Rs312262754(AT;AT)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44892748_44892749delAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034209.2,

[PMID 20390432] Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.