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rs797045002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045002(G;T)
Make rs797045002(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position123325321
GeneADCY5
is asnp
is mentioned by
dbSNPrs797045002
dbSNP (classic)rs797045002
ClinGenrs797045002
ebirs797045002
HLIrs797045002
Exacrs797045002
Gnomadrs797045002
Varsomers797045002
LitVarrs797045002
Maprs797045002
PheGenIrs797045002
Biobankrs797045002
1000 genomesrs797045002
hgdprs797045002
ensemblrs797045002
geneviewrs797045002
scholarrs797045002
googlers797045002
pharmgkbrs797045002
gwascentralrs797045002
openSNPrs797045002
23andMers797045002
SNPshotrs797045002
SNPdbers797045002
MSV3drs797045002
GWAS Ctlgrs797045002
Max Magnitude0
ClinVar
Risk rs797045002(A;A) rs797045002(T;T)
Alt rs797045002(A;A) rs797045002(T;T)
Reference Rs797045002(G;G)
Significance Pathogenic
Disease Dyskinesia
Variation info
Gene ADCY5
CLNDBN Dyskinesia, familial, with facial myokymia
Reversed 1
HGVS NC_000003.11:g.123044168C>A; NC_000003.11:g.123044168C>T
CLNSRC
CLNACC RCV000190498.1, RCV000202586.1,