rs28940284

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8.9	Parkinson's disease, type 6, early-onset
(A;C)	3	Carrier of an early-onset Parkinson's mutation
(C;C)	0	common in complete genomics

Reference

GRCh38 38.1/141

Chromosome

1

Position

20644526

Gene	PINK1, PINK1-AS

is a	snp
is	mentioned by
dbSNP	rs28940284
dbSNP (classic)	rs28940284
ClinGen	rs28940284
ebi	rs28940284
HLI	rs28940284
Exac	rs28940284
Gnomad	rs28940284
Varsome	rs28940284
LitVar	rs28940284
Map	rs28940284
PheGenI	rs28940284
Biobank	rs28940284
1000 genomes	rs28940284
hgdp	rs28940284
ensembl	rs28940284
geneview	rs28940284
scholar	rs28940284
google	rs28940284
pharmgkb	rs28940284
gwascentral	rs28940284
openSNP	rs28940284
23andMe	rs28940284
SNPshot	rs28940284
SNPdbe	rs28940284
MSV3d	rs28940284
GWAS Ctlg	rs28940284

Max Magnitude

8.9

c.813C>A (p.His271Gln)

23andMe calls this i5047063

OMIM	608309
Desc	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
Variant	0004
Related	also

ClinVar
Risk	Rs28940284(A;A)
Alt	Rs28940284(A;A)
Reference	Rs28940284(C;C)
Significance	Pathogenic
Disease	Parkinson disease 6
Variation	info
Gene	PINK1-AS PINK1
CLNDBN	Parkinson disease 6, autosomal recessive early-onset
Reversed	0
HGVS	NC_000001.10:g.20971019C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002506.3,