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rs756677845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8.9 Parkinson's disease, type 6, early-onset
(-;G) 3 Carrier of an early-onset Parkinson's mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position20638074
GenePINK1
is asnp
is mentioned by
dbSNPrs756677845
dbSNP (classic)rs756677845
ClinGenrs756677845
ebirs756677845
HLIrs756677845
Exacrs756677845
Gnomadrs756677845
Varsomers756677845
LitVarrs756677845
Maprs756677845
PheGenIrs756677845
Biobankrs756677845
1000 genomesrs756677845
hgdprs756677845
ensemblrs756677845
geneviewrs756677845
scholarrs756677845
googlers756677845
pharmgkbrs756677845
gwascentralrs756677845
openSNPrs756677845
23andMers756677845
SNPshotrs756677845
SNPdbers756677845
MSV3drs756677845
GWAS Ctlgrs756677845
Max Magnitude8.9

c.620delG (p.Arg207Glnfs)

ClinVar
Risk Rs756677845(-;-)
Alt Rs756677845(-;-)
Reference Rs756677845(G;G)
Significance Pathogenic
Disease Parkinson disease 6
Variation info
Gene PINK1
CLNDBN Parkinson disease 6, autosomal recessive early-onset
Reversed 0
HGVS NC_000001.10:g.20964567delG
CLNSRC
CLNACC RCV000169671.1,