rs312262715

Orientation

minus

Stabilized

minus

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

Make rs312262715(C;C)

Make rs312262715(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44660431

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262715
dbSNP (classic)	rs312262715
ClinGen	rs312262715
ebi	rs312262715
HLI	rs312262715
Exac	rs312262715
Gnomad	rs312262715
Varsome	rs312262715
LitVar	rs312262715
Map	rs312262715
PheGenI	rs312262715
Biobank	rs312262715
1000 genomes	rs312262715
hgdp	rs312262715
ensembl	rs312262715
geneview	rs312262715
scholar	rs312262715
google	rs312262715
pharmgkb	rs312262715
gwascentral	rs312262715
openSNP	rs312262715
23andMe	rs312262715
SNPshot	rs312262715
SNPdbe	rs312262715
MSV3d	rs312262715
GWAS Ctlg	rs312262715

Max Magnitude

0

ClinVar
Risk	rs312262715(C;C)
Alt	rs312262715(C;C)
Reference	Rs312262715(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.44952629C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001173.4,

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