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rs74315354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.7 Parkinson's disease, type 7, early-onset (likely)
(A;G) 3 Carrier of an early-onset Parkinson's mutation (likely)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position7984971
GenePARK7
is asnp
is mentioned by
dbSNPrs74315354
dbSNP (classic)rs74315354
ClinGenrs74315354
ebirs74315354
HLIrs74315354
Exacrs74315354
Gnomadrs74315354
Varsomers74315354
LitVarrs74315354
Maprs74315354
PheGenIrs74315354
Biobankrs74315354
1000 genomesrs74315354
hgdprs74315354
ensemblrs74315354
geneviewrs74315354
scholarrs74315354
googlers74315354
pharmgkbrs74315354
gwascentralrs74315354
openSNPrs74315354
23andMers74315354
SNPshotrs74315354
SNPdbers74315354
MSV3drs74315354
GWAS Ctlgrs74315354
Max Magnitude8.7

c.[-24+75_-24+92dup;487G>A] – Haplotype

23andMe calls this i5047038

OMIM602533
Desc
Variant0006
Relatedalso
ClinVar
Risk Rs74315354(A;A)
Alt Rs74315354(A;A)
Reference Rs74315354(G;G)
Significance Pathogenic
Disease Parkinson disease 7
Variation info
Gene PARK7
CLNDBN Parkinson disease 7
Reversed 0
HGVS NC_000001.10:g.8045031G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007484.1,