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rs397518439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of an early-onset Parkinson's mutation
(T;T) 9 Early-onset (juvenile) Parkinson's disease likely
ReferenceGRCh38 38.1/141
Chromosome6
Position162727661
GenePACRG, PARK2
is asnp
is mentioned by
dbSNPrs397518439
dbSNP (classic)rs397518439
ClinGenrs397518439
ebirs397518439
HLIrs397518439
Exacrs397518439
Gnomadrs397518439
Varsomers397518439
LitVarrs397518439
Maprs397518439
PheGenIrs397518439
Biobankrs397518439
1000 genomesrs397518439
hgdprs397518439
ensemblrs397518439
geneviewrs397518439
scholarrs397518439
googlers397518439
pharmgkbrs397518439
gwascentralrs397518439
openSNPrs397518439
23andMers397518439
SNPshotrs397518439
SNPdbers397518439
MSV3drs397518439
GWAS Ctlgrs397518439
Max Magnitude9

c.7+1G>T

ClinVar
Risk Rs397518439(T;T)
Alt Rs397518439(T;T)
Reference Rs397518439(G;G)
Significance Pathogenic
Disease Parkinson disease 2
Variation info
Gene PACRG PARK2
CLNDBN Parkinson disease 2
Reversed 1
HGVS NC_000006.11:g.163148693C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007469.4,