rs2292954

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common on affy axiom data

Make rs2292954(C;C)

Make rs2292954(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89546715

Gene

SPG7

is a	snp
is	mentioned by
dbSNP	rs2292954
dbSNP (classic)	rs2292954
ClinGen	rs2292954
ebi	rs2292954
HLI	rs2292954
Exac	rs2292954
Gnomad	rs2292954
Varsome	rs2292954
LitVar	rs2292954
Map	rs2292954
PheGenI	rs2292954
Biobank	rs2292954
1000 genomes	rs2292954
hgdp	rs2292954
ensembl	rs2292954
geneview	rs2292954
scholar	rs2292954
google	rs2292954
pharmgkb	rs2292954
gwascentral	rs2292954
openSNP	rs2292954
23andMe	rs2292954
SNPshot	rs2292954
SNPdbe	rs2292954
MSV3d	rs2292954
GWAS Ctlg	rs2292954

GMAF

0.1189

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs2292954(C;C)
Alt	rs2292954(C;C)
Reference	Rs2292954(T;T)
Significance	Other
Disease	not specified Spastic Paraplegia
Variation	info
Gene	RPL13 SPG7
CLNDBN	not specified Spastic Paraplegia, Recessive
Reversed	1
HGVS	NC_000016.9:g.89613123A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000118409.3, RCV000369973.1,