rs1057519293

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	3	Carrier of a spastic paraplegia mutation (type 78)
(T;T)	7.8	Spastic paraplegia, type 78

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

16996262

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs1057519293
dbSNP (classic)	rs1057519293
ClinGen	rs1057519293
ebi	rs1057519293
HLI	rs1057519293
Exac	rs1057519293
Gnomad	rs1057519293
Varsome	rs1057519293
LitVar	rs1057519293
Map	rs1057519293
PheGenI	rs1057519293
Biobank	rs1057519293
1000 genomes	rs1057519293
hgdp	rs1057519293
ensembl	rs1057519293
geneview	rs1057519293
scholar	rs1057519293
google	rs1057519293
pharmgkb	rs1057519293
gwascentral	rs1057519293
openSNP	rs1057519293
23andMe	rs1057519293
SNPshot	rs1057519293
SNPdbe	rs1057519293
MSV3d	rs1057519293
GWAS Ctlg	rs1057519293

Max Magnitude

7.8

c.1345C>T (p.Arg449Ter)

ClinVar
Risk	Rs1057519293(T;T)
Alt	Rs1057519293(T;T)
Reference	Rs1057519293(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 78
Variation	info
Gene	ATP13A2
CLNDBN	Spastic paraplegia 78, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.17322757G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415578.1,