rs312262728

Orientation

minus

Stabilized

minus

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

Make rs312262728(C;T)

Make rs312262728(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44648976

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262728
dbSNP (classic)	rs312262728
ClinGen	rs312262728
ebi	rs312262728
HLI	rs312262728
Exac	rs312262728
Gnomad	rs312262728
Varsome	rs312262728
LitVar	rs312262728
Map	rs312262728
PheGenI	rs312262728
Biobank	rs312262728
1000 genomes	rs312262728
hgdp	rs312262728
ensembl	rs312262728
geneview	rs312262728
scholar	rs312262728
google	rs312262728
pharmgkb	rs312262728
gwascentral	rs312262728
openSNP	rs312262728
23andMe	rs312262728
SNPshot	rs312262728
SNPdbe	rs312262728
MSV3d	rs312262728
GWAS Ctlg	rs312262728

Max Magnitude

0

ClinVar
Risk	rs312262728(T;T)
Alt	rs312262728(T;T)
Reference	Rs312262728(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44941174G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034301.2,