rs312262791

Orientation

minus

Stabilized

minus

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

Make rs312262791(-;-)

Make rs312262791(-;AGTA)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44564540

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262791
dbSNP (classic)	rs312262791
ClinGen	rs312262791
ebi	rs312262791
HLI	rs312262791
Exac	rs312262791
Gnomad	rs312262791
Varsome	rs312262791
LitVar	rs312262791
Map	rs312262791
PheGenI	rs312262791
Biobank	rs312262791
1000 genomes	rs312262791
hgdp	rs312262791
ensembl	rs312262791
geneview	rs312262791
scholar	rs312262791
google	rs312262791
pharmgkb	rs312262791
gwascentral	rs312262791
openSNP	rs312262791
23andMe	rs312262791
SNPshot	rs312262791
SNPdbe	rs312262791
MSV3d	rs312262791
GWAS Ctlg	rs312262791

Max Magnitude

0

ClinVar
Risk	rs312262791(-;-)
Alt	rs312262791(-;-)
Reference	Rs312262791(AGTA;AGTA)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44856738_44856741delTACT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034263.2,

[PMID 18835492] Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.