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rs74315353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8.7 Parkinson's disease, type 7, early-onset
(C;G) 3 Carrier of an early-onset Parkinson's mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position7965425
GenePARK7
is asnp
is mentioned by
dbSNPrs74315353
dbSNP (classic)rs74315353
ClinGenrs74315353
ebirs74315353
HLIrs74315353
Exacrs74315353
Gnomadrs74315353
Varsomers74315353
LitVarrs74315353
Maprs74315353
PheGenIrs74315353
Biobankrs74315353
1000 genomesrs74315353
hgdprs74315353
ensemblrs74315353
geneviewrs74315353
scholarrs74315353
googlers74315353
pharmgkbrs74315353
gwascentralrs74315353
openSNPrs74315353
23andMers74315353
SNPshotrs74315353
SNPdbers74315353
MSV3drs74315353
GWAS Ctlgrs74315353
Max Magnitude8.7

c.192G>C (p.Glu64Asp or E64D)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 7)

See also OMIM 602533.0005

23andMe names this i5047044

OMIM602533
Desc
Variant0005
Relatedalso
ClinVar
Risk Rs74315353(C;C)
Alt Rs74315353(C;C)
Reference Rs74315353(G;G)
Significance Pathogenic
Disease Parkinson disease 7
Variation info
Gene PARK7
CLNDBN Parkinson disease 7
Reversed 0
HGVS NC_000001.10:g.8025485G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007483.3,