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rs28940284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.9 Parkinson's disease, type 6, early-onset
(A;C) 3 Carrier of an early-onset Parkinson's mutation
(C;C) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome1
Position20644526
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs28940284
dbSNP (old)rs28940284
ClinGenrs28940284
ebirs28940284
HLIrs28940284
Exacrs28940284
Varsomers28940284
Maprs28940284
PheGenIrs28940284
Biobankrs28940284
1000 genomesrs28940284
hgdprs28940284
ensemblrs28940284
gopubmedrs28940284
geneviewrs28940284
scholarrs28940284
googlers28940284
pharmgkbrs28940284
gwascentralrs28940284
openSNPrs28940284
23andMers28940284
23andMe allrs28940284
SNP Nexus

SNPshotrs28940284
SNPdbers28940284
MSV3drs28940284
GWAS Ctlgrs28940284
Max Magnitude8.9

c.813C>A (p.His271Gln)

23andMe calls this i5047063

OMIM608309
DescPARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
Variant0004
Relatedalso


ClinVar
Risk Rs28940284(A;A)
Alt Rs28940284(A;A)
Reference Rs28940284(C;C)
Significance Pathogenic
Disease Parkinson disease 6
Variation info
Gene PINK1-AS PINK1
CLNDBN Parkinson disease 6, autosomal recessive early-onset
Reversed 0
HGVS NC_000001.10:g.20971019C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002506.3,