rs1057519291

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

16993828

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs1057519291
dbSNP (classic)	rs1057519291
ClinGen	rs1057519291
ebi	rs1057519291
HLI	rs1057519291
Exac	rs1057519291
Gnomad	rs1057519291
Varsome	rs1057519291
LitVar	rs1057519291
Map	rs1057519291
PheGenI	rs1057519291
Biobank	rs1057519291
1000 genomes	rs1057519291
hgdp	rs1057519291
ensembl	rs1057519291
geneview	rs1057519291
scholar	rs1057519291
google	rs1057519291
pharmgkb	rs1057519291
gwascentral	rs1057519291
openSNP	rs1057519291
23andMe	rs1057519291
SNPshot	rs1057519291
SNPdbe	rs1057519291
MSV3d	rs1057519291
GWAS Ctlg	rs1057519291

Max Magnitude

7.8

c.1550C>T (p.Thr517Ile)

ClinVar
Risk	Rs1057519291(T;T)
Alt	Rs1057519291(T;T)
Reference	Rs1057519291(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.17320323G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415515.1,