rs1057519289

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

16986346

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs1057519289
dbSNP (classic)	rs1057519289
ClinGen	rs1057519289
ebi	rs1057519289
HLI	rs1057519289
Exac	rs1057519289
Gnomad	rs1057519289
Varsome	rs1057519289
LitVar	rs1057519289
Map	rs1057519289
PheGenI	rs1057519289
Biobank	rs1057519289
1000 genomes	rs1057519289
hgdp	rs1057519289
ensembl	rs1057519289
geneview	rs1057519289
scholar	rs1057519289
google	rs1057519289
pharmgkb	rs1057519289
gwascentral	rs1057519289
openSNP	rs1057519289
23andMe	rs1057519289
SNPshot	rs1057519289
SNPdbe	rs1057519289
MSV3d	rs1057519289
GWAS Ctlg	rs1057519289

Max Magnitude

7.8

c.3418C>T (p.Gln1140Ter)

ClinVar
Risk	Rs1057519289(T;T)
Alt	Rs1057519289(T;T)
Reference	Rs1057519289(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.17312841G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415542.1,