rs188286943

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Parkinson's disease mutation, adult-onset

Make rs188286943(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

46662452

Gene

VPS35

is a	snp
is	mentioned by
dbSNP	rs188286943
dbSNP (classic)	rs188286943
ClinGen	rs188286943
ebi	rs188286943
HLI	rs188286943
Exac	rs188286943
Gnomad	rs188286943
Varsome	rs188286943
LitVar	rs188286943
Map	rs188286943
PheGenI	rs188286943
Biobank	rs188286943
1000 genomes	rs188286943
hgdp	rs188286943
ensembl	rs188286943
geneview	rs188286943
scholar	rs188286943
google	rs188286943
pharmgkb	rs188286943
gwascentral	rs188286943
openSNP	rs188286943
23andMe	rs188286943
SNPshot	rs188286943
SNPdbe	rs188286943
MSV3d	rs188286943
GWAS Ctlg	rs188286943

Max Magnitude

6.5

aka c.1858G>A, p.Asp620Asn, D620N

Lengthy discussion on OMIM at 601501.0001

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Parkinson disease.

ClinVar
Risk	rs188286943(T;T)
Alt	rs188286943(T;T)
Reference	Rs188286943(C;C)
Significance	Pathogenic
Disease	Parkinson disease 17
Variation	info
Gene	VPS35
CLNDBN	Parkinson disease 17
Reversed	0
HGVS	NC_000016.9:g.46696364C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023115.5,