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rs749798211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 Parkinson's mutation, type 9, early-onset
(-;GAAGGGGTCGGAC) 3 Carrier of a Parkinson's mutation, type 9, early-onset
(CAGGCTGGGGAAG;CAGGCTGGGGAAG) 0 common in clinvar
(GAAGGGGTCGGAC;GAAGGGGTCGGAC) 0 common/normal
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position17004818
GeneATP13A2
is asnp
is mentioned by
dbSNPrs749798211
ClinGenrs749798211
ebirs749798211
HLIrs749798211
Exacrs749798211
Varsomers749798211
Maprs749798211
PheGenIrs749798211
hapmaprs749798211
1000 genomesrs749798211
hgdprs749798211
ensemblrs749798211
gopubmedrs749798211
geneviewrs749798211
scholarrs749798211
googlers749798211
pharmgkbrs749798211
gwascentralrs749798211
openSNPrs749798211
23andMers749798211
23andMe allrs749798211
SNP Nexus

SNPshotrs749798211
SNPdbers749798211
MSV3drs749798211
GWAS Ctlgrs749798211
Max Magnitude8

c.348-9_351del

ClinVar
Risk Rs749798211(-;-)
Alt Rs749798211(-;-)
Reference Rs749798211(CAGGCTGGGGAAG;CAGGCTGGGGAAG)
Significance Pathogenic
Disease Parkinson disease 9
Variation info
Gene ATP13A2
CLNDBN Parkinson disease 9
Reversed 0
HGVS NC_000001.10:g.17331313_17331325delCAGGCTGGGGAAG
CLNSRC Baylor College of Medicine
CLNACC RCV000191064.1,