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rs762033589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;TC) 3 Carrier of a Parkinson's mutation, type 9, early-onset
(TC;TC) 8 Parkinson's mutation, type 9, early-onset
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position16997112
GeneATP13A2
is asnp
is mentioned by
dbSNPrs762033589
dbSNP (classic)rs762033589
ClinGenrs762033589
ebirs762033589
HLIrs762033589
Exacrs762033589
Gnomadrs762033589
Varsomers762033589
LitVarrs762033589
Maprs762033589
PheGenIrs762033589
Biobankrs762033589
1000 genomesrs762033589
hgdprs762033589
ensemblrs762033589
geneviewrs762033589
scholarrs762033589
googlers762033589
pharmgkbrs762033589
gwascentralrs762033589
openSNPrs762033589
23andMers762033589
SNPshotrs762033589
SNPdbers762033589
MSV3drs762033589
GWAS Ctlgrs762033589
Max Magnitude8

c.1101_1102dupGA (p.Thr368Argfs)

ClinVar
Risk Rs762033589(TC;TC)
Alt Rs762033589(TC;TC)
Reference Rs762033589(-;-)
Significance Pathogenic
Disease Parkinson disease 9
Variation info
Gene ATP13A2
CLNDBN Parkinson disease 9
Reversed 0
HGVS NC_000001.10:g.17323608_17323609dupTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023818.4,