rs199624796

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8	Parkinson's mutation, type 9, early-onset
(A;G)	3	Carrier of a Parkinson's mutation, type 9, early-onset
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

1

Position

17004399

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs199624796
dbSNP (classic)	rs199624796
ClinGen	rs199624796
ebi	rs199624796
HLI	rs199624796
Exac	rs199624796
Gnomad	rs199624796
Varsome	rs199624796
LitVar	rs199624796
Map	rs199624796
PheGenI	rs199624796
Biobank	rs199624796
1000 genomes	rs199624796
hgdp	rs199624796
ensembl	rs199624796
geneview	rs199624796
scholar	rs199624796
google	rs199624796
pharmgkb	rs199624796
gwascentral	rs199624796
openSNP	rs199624796
23andMe	rs199624796
SNPshot	rs199624796
SNPdbe	rs199624796
MSV3d	rs199624796
GWAS Ctlg	rs199624796

Max Magnitude

8

c.490C>T (p.Arg164Trp)

ClinVar
Risk	Rs199624796(A;A)
Alt	Rs199624796(A;A)
Reference	Rs199624796(G;G)
Significance	Pathogenic
Disease	Parkinson disease 9
Variation	info
Gene	ATP13A2
CLNDBN	Parkinson disease 9
Reversed	0
HGVS	NC_000001.10:g.17330894G>A
CLNSRC	ClinVar
CLNACC	RCV000132730.1,