rs121918227

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

16996008

Gene

ATP13A2

is a	snp
is	mentioned by
dbSNP	rs121918227
dbSNP (classic)	rs121918227
ClinGen	rs121918227
ebi	rs121918227
HLI	rs121918227
Exac	rs121918227
Gnomad	rs121918227
Varsome	rs121918227
LitVar	rs121918227
Map	rs121918227
PheGenI	rs121918227
Biobank	rs121918227
1000 genomes	rs121918227
hgdp	rs121918227
ensembl	rs121918227
geneview	rs121918227
scholar	rs121918227
google	rs121918227
pharmgkb	rs121918227
gwascentral	rs121918227
openSNP	rs121918227
23andMe	rs121918227
SNPshot	rs121918227
SNPdbe	rs121918227
MSV3d	rs121918227
GWAS Ctlg	rs121918227

Max Magnitude

8

c.1510G>C (p.Gly504Arg)

OMIM	610513
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs121918227(C;C)
Alt	Rs121918227(C;C)
Reference	Rs121918227(G;G)
Significance	Pathogenic
Disease	Parkinson disease 9
Variation	info
Gene	ATP13A2
CLNDBN	Parkinson disease 9
Reversed	1
HGVS	NC_000001.10:g.17322503C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001280.5,