rs587777053

Orientation

plus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

1

Position

16989739

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs587777053
dbSNP (classic)	rs587777053
ClinGen	rs587777053
ebi	rs587777053
HLI	rs587777053
Exac	rs587777053
Gnomad	rs587777053
Varsome	rs587777053
LitVar	rs587777053
Map	rs587777053
PheGenI	rs587777053
Biobank	rs587777053
1000 genomes	rs587777053
hgdp	rs587777053
ensembl	rs587777053
geneview	rs587777053
scholar	rs587777053
google	rs587777053
pharmgkb	rs587777053
gwascentral	rs587777053
openSNP	rs587777053
23andMe	rs587777053
SNPshot	rs587777053
SNPdbe	rs587777053
MSV3d	rs587777053
GWAS Ctlg	rs587777053

Max Magnitude

8

c.2561T>G (p.Met854Arg)

ClinVar
Risk	Rs587777053(A;A) Rs587777053(C;C)
Alt	Rs587777053(A;A) Rs587777053(C;C)
Reference	Rs587777053(T;T)
Significance	Pathogenic
Disease	Parkinson disease 9
Variation	info
Gene	ATP13A2
CLNDBN	Parkinson disease 9
Reversed	1
HGVS	NC_000001.10:g.17316234A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056335.9,