rs1057519292

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

17004805

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs1057519292
dbSNP (classic)	rs1057519292
ClinGen	rs1057519292
ebi	rs1057519292
HLI	rs1057519292
Exac	rs1057519292
Gnomad	rs1057519292
Varsome	rs1057519292
LitVar	rs1057519292
Map	rs1057519292
PheGenI	rs1057519292
Biobank	rs1057519292
1000 genomes	rs1057519292
hgdp	rs1057519292
ensembl	rs1057519292
geneview	rs1057519292
scholar	rs1057519292
google	rs1057519292
pharmgkb	rs1057519292
gwascentral	rs1057519292
openSNP	rs1057519292
23andMe	rs1057519292
SNPshot	rs1057519292
SNPdbe	rs1057519292
MSV3d	rs1057519292
GWAS Ctlg	rs1057519292

Max Magnitude

7.8

c.364C>T (p.Gln122Ter)

ClinVar
Risk	Rs1057519292(T;T)
Alt	Rs1057519292(T;T)
Reference	Rs1057519292(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.17331300G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415546.1,