rs312262744

Orientation

minus

Stabilized

minus

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

Make rs312262744(-;T)

Make rs312262744(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44621906

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262744
dbSNP (classic)	rs312262744
ClinGen	rs312262744
ebi	rs312262744
HLI	rs312262744
Exac	rs312262744
Gnomad	rs312262744
Varsome	rs312262744
LitVar	rs312262744
Map	rs312262744
PheGenI	rs312262744
Biobank	rs312262744
1000 genomes	rs312262744
hgdp	rs312262744
ensembl	rs312262744
geneview	rs312262744
scholar	rs312262744
google	rs312262744
pharmgkb	rs312262744
gwascentral	rs312262744
openSNP	rs312262744
23andMe	rs312262744
SNPshot	rs312262744
SNPdbe	rs312262744
MSV3d	rs312262744
GWAS Ctlg	rs312262744

Max Magnitude

0

ClinVar
Risk	rs312262744(T;T)
Alt	rs312262744(T;T)
Reference	Rs312262744(-;-)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44914104_44914105insA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001172.4,

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