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rs5030732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030732(A;A)
Make rs5030732(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position41257616
GeneUCHL1, UCHL1-AS1
is asnp
is mentioned by
dbSNPrs5030732
ebirs5030732
HLIrs5030732
Exacrs5030732
Varsomers5030732
Maprs5030732
PheGenIrs5030732
hapmaprs5030732
1000 genomesrs5030732
hgdprs5030732
ensemblrs5030732
gopubmedrs5030732
geneviewrs5030732
scholarrs5030732
googlers5030732
pharmgkbrs5030732
gwascentralrs5030732
openSNPrs5030732
23andMers5030732
23andMe allrs5030732
SNP Nexus

SNPshotrs5030732
SNPdbers5030732
MSV3drs5030732
GWAS Ctlgrs5030732
GMAF0.242
Max Magnitude0
OMIM191342
Desc
Variant0002
Relatedalso
ClinVar
Risk rs5030732(A;A)
Alt rs5030732(A;A)
Reference rs5030732(C;C)
Significance Unknown
Disease Parkinson disease 5
Variation info
Gene UCHL1-AS1 UCHL1
CLNDBN Parkinson disease 5
Reversed 0
HGVS NC_000004.11:g.41259633C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013092.3,


[PMID 20302855] Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese.

GET Evidence
UCHL1-S18Y
aa_change Ser18Tyr
aa_change_short S18Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0985011
summary