rs200079802

Orientation

plus

Stabilized

plus

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

Make rs200079802(C;G)

Make rs200079802(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44563302

Gene	EIF3J, SPG11

is a	snp
is	mentioned by
dbSNP	rs200079802
dbSNP (classic)	rs200079802
ClinGen	rs200079802
ebi	rs200079802
HLI	rs200079802
Exac	rs200079802
Gnomad	rs200079802
Varsome	rs200079802
LitVar	rs200079802
Map	rs200079802
PheGenI	rs200079802
Biobank	rs200079802
1000 genomes	rs200079802
hgdp	rs200079802
ensembl	rs200079802
geneview	rs200079802
scholar	rs200079802
google	rs200079802
pharmgkb	rs200079802
gwascentral	rs200079802
openSNP	rs200079802
23andMe	rs200079802
SNPshot	rs200079802
SNPdbe	rs200079802
MSV3d	rs200079802
GWAS Ctlg	rs200079802

Max Magnitude

0

ClinVar
Risk	rs200079802(G;G)
Alt	rs200079802(G;G)
Reference	Rs200079802(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11 EIF3J
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	0
HGVS	NC_000015.9:g.44855500C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001174.4,

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