rs312262765

Orientation

minus

Stabilized

minus

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

Make rs312262765(AGAT;TGGAGGAG)

Make rs312262765(TGGAGGAG;TGGAGGAG)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44584278

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262765
dbSNP (classic)	rs312262765
ClinGen	rs312262765
ebi	rs312262765
HLI	rs312262765
Exac	rs312262765
Gnomad	rs312262765
Varsome	rs312262765
LitVar	rs312262765
Map	rs312262765
PheGenI	rs312262765
Biobank	rs312262765
1000 genomes	rs312262765
hgdp	rs312262765
ensembl	rs312262765
geneview	rs312262765
scholar	rs312262765
google	rs312262765
pharmgkb	rs312262765
gwascentral	rs312262765
openSNP	rs312262765
23andMe	rs312262765
SNPshot	rs312262765
SNPdbe	rs312262765
MSV3d	rs312262765
GWAS Ctlg	rs312262765

Max Magnitude

0

ClinVar
Risk	rs312262765(TGGAGGAG;TGGAGGAG)
Alt	rs312262765(TGGAGGAG;TGGAGGAG)
Reference	Rs312262765(AGAT;AGAT)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44876476_44876479delATCTinsCTCCTCCA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034223.2,

[PMID 18337587] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.