rs104893878

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	6.5	Parkinson's disease mutation, adult-onset
(G;G)	0	common in clinvar

Make rs104893878(C;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

89835580

Gene	SNCA, SNCA-AS1

is a	snp
is	mentioned by
dbSNP	rs104893878
dbSNP (classic)	rs104893878
ClinGen	rs104893878
ebi	rs104893878
HLI	rs104893878
Exac	rs104893878
Gnomad	rs104893878
Varsome	rs104893878
LitVar	rs104893878
Map	rs104893878
PheGenI	rs104893878
Biobank	rs104893878
1000 genomes	rs104893878
hgdp	rs104893878
ensembl	rs104893878
geneview	rs104893878
scholar	rs104893878
google	rs104893878
pharmgkb	rs104893878
gwascentral	rs104893878
openSNP	rs104893878
23andMe	rs104893878
SNPshot	rs104893878
SNPdbe	rs104893878
MSV3d	rs104893878
GWAS Ctlg	rs104893878

Max Magnitude

6.5

c.88G>C (p.Ala30Pro or A30P)

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

23andMe calls this i6018768

OMIM	163890
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893878(C;C)
Alt	rs104893878(C;C)
Reference	Rs104893878(G;G)
Significance	Pathogenic
Disease	Parkinson disease 1
Variation	info
Gene	SNCA-AS1 SNCA
CLNDBN	Parkinson disease 1
Reversed	1
HGVS	NC_000004.11:g.90756731C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015045.27,