Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.7 Parkinson's disease, type 7, early-onset
(A;G) 3 Carrier of an early-onset Parkinson's mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position7962863
GenePARK7
is asnp
is mentioned by
dbSNPrs74315351
dbSNP (classic)rs74315351
ClinGenrs74315351
ebirs74315351
HLIrs74315351
Exacrs74315351
Gnomadrs74315351
Varsomers74315351
LitVarrs74315351
Maprs74315351
PheGenIrs74315351
Biobankrs74315351
1000 genomesrs74315351
hgdprs74315351
ensemblrs74315351
geneviewrs74315351
scholarrs74315351
googlers74315351
pharmgkbrs74315351
gwascentralrs74315351
openSNPrs74315351
23andMers74315351
23andMe allrs74315351
SNPshotrs74315351
SNPdbers74315351
MSV3drs74315351
GWAS Ctlgrs74315351
Max Magnitude8.7

c.78G>A (p.Met26Ile or M26I)

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

See also OMIM 602533.0003

23andMe names this i5047037

OMIM602533
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs74315351(A;A)
Alt Rs74315351(A;A)
Reference Rs74315351(G;G)
Significance Pathogenic
Disease Parkinson disease 7
Variation info
Gene PARK7
CLNDBN Parkinson disease 7
Reversed 0
HGVS NC_000001.10:g.8022923G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007481.4,