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rs864309484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309484(A;A)
Make rs864309484(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position123291354
GeneADCY5
is asnp
is mentioned by
dbSNPrs864309484
dbSNP (classic)rs864309484
ClinGenrs864309484
ebirs864309484
HLIrs864309484
Exacrs864309484
Gnomadrs864309484
Varsomers864309484
LitVarrs864309484
Maprs864309484
PheGenIrs864309484
Biobankrs864309484
1000 genomesrs864309484
hgdprs864309484
ensemblrs864309484
geneviewrs864309484
scholarrs864309484
googlers864309484
pharmgkbrs864309484
gwascentralrs864309484
openSNPrs864309484
23andMers864309484
SNPshotrs864309484
SNPdbers864309484
MSV3drs864309484
GWAS Ctlgrs864309484
Max Magnitude0
ClinVar
Risk rs864309484(A;A)
Alt rs864309484(A;A)
Reference Rs864309484(T;T)
Significance Pathogenic
Disease Dyskinesia
Variation info
Gene ADCY5
CLNDBN Dyskinesia, familial, with facial myokymia
Reversed 1
HGVS NC_000003.11:g.123010201A>T
CLNSRC
CLNACC RCV000202493.1,