rs144701072

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Parkinson's mutation, type 9, early-onset
(T;T)	8	Parkinson's mutation, type 9, early-onset

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

16988455

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs144701072
dbSNP (classic)	rs144701072
ClinGen	rs144701072
ebi	rs144701072
HLI	rs144701072
Exac	rs144701072
Gnomad	rs144701072
Varsome	rs144701072
LitVar	rs144701072
Map	rs144701072
PheGenI	rs144701072
Biobank	rs144701072
1000 genomes	rs144701072
hgdp	rs144701072
ensembl	rs144701072
geneview	rs144701072
scholar	rs144701072
google	rs144701072
pharmgkb	rs144701072
gwascentral	rs144701072
openSNP	rs144701072
23andMe	rs144701072
SNPshot	rs144701072
SNPdbe	rs144701072
MSV3d	rs144701072
GWAS Ctlg	rs144701072

Max Magnitude

8

c.2629G>A (p.Gly877Arg)

ClinVar
Risk	Rs144701072(T;T)
Alt	Rs144701072(T;T)
Reference	Rs144701072(C;C)
Significance	Pathogenic
Disease	Parkinson disease 9
Variation	info
Gene	ATP13A2
CLNDBN	Parkinson disease 9
Reversed	0
HGVS	NC_000001.10:g.17314950C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056336.4,