rs312262730

Orientation

minus

Stabilized

minus

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

Make rs312262730(-;-)

Make rs312262730(-;TT)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44648917

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262730
dbSNP (classic)	rs312262730
ClinGen	rs312262730
ebi	rs312262730
HLI	rs312262730
Exac	rs312262730
Gnomad	rs312262730
Varsome	rs312262730
LitVar	rs312262730
Map	rs312262730
PheGenI	rs312262730
Biobank	rs312262730
1000 genomes	rs312262730
hgdp	rs312262730
ensembl	rs312262730
geneview	rs312262730
scholar	rs312262730
google	rs312262730
pharmgkb	rs312262730
gwascentral	rs312262730
openSNP	rs312262730
23andMe	rs312262730
SNPshot	rs312262730
SNPdbe	rs312262730
MSV3d	rs312262730
GWAS Ctlg	rs312262730

Max Magnitude

0

ClinVar
Risk	rs312262730(-;-)
Alt	rs312262730(-;-)
Reference	Rs312262730(TT;TT)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44941115_44941116delAA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034176.2,

[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.