rs312262778

Orientation

minus

Stabilized

minus

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

Make rs312262778(C;C)

Make rs312262778(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44572821

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262778
dbSNP (classic)	rs312262778
ClinGen	rs312262778
ebi	rs312262778
HLI	rs312262778
Exac	rs312262778
Gnomad	rs312262778
Varsome	rs312262778
LitVar	rs312262778
Map	rs312262778
PheGenI	rs312262778
Biobank	rs312262778
1000 genomes	rs312262778
hgdp	rs312262778
ensembl	rs312262778
geneview	rs312262778
scholar	rs312262778
google	rs312262778
pharmgkb	rs312262778
gwascentral	rs312262778
openSNP	rs312262778
23andMe	rs312262778
SNPshot	rs312262778
SNPdbe	rs312262778
MSV3d	rs312262778
GWAS Ctlg	rs312262778

Max Magnitude

0

ClinVar
Risk	rs312262778(C;C)
Alt	rs312262778(C;C)
Reference	Rs312262778(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.44865019C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034243.2,

[PMID 19194956] SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.