rs1057519290

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

16986886

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs1057519290
dbSNP (classic)	rs1057519290
ClinGen	rs1057519290
ebi	rs1057519290
HLI	rs1057519290
Exac	rs1057519290
Gnomad	rs1057519290
Varsome	rs1057519290
LitVar	rs1057519290
Map	rs1057519290
PheGenI	rs1057519290
Biobank	rs1057519290
1000 genomes	rs1057519290
hgdp	rs1057519290
ensembl	rs1057519290
geneview	rs1057519290
scholar	rs1057519290
google	rs1057519290
pharmgkb	rs1057519290
gwascentral	rs1057519290
openSNP	rs1057519290
23andMe	rs1057519290
SNPshot	rs1057519290
SNPdbe	rs1057519290
MSV3d	rs1057519290
GWAS Ctlg	rs1057519290

Max Magnitude

7.8

c.3152_3154delTCT (p.Phe1051del)

ClinVar
Risk	Rs1057519290(-;-)
Alt	Rs1057519290(-;-)
Reference	Rs1057519290(TCT;TCT)
Significance	Pathogenic
Disease	Spastic paraplegia 78
Variation	info
Gene	ATP13A2
CLNDBN	Spastic paraplegia 78, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.17313381_17313383delAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415585.1,