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rs772994486

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs772994486(-;-)
Make rs772994486(-;C)
Make rs772994486(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position29813694
GenePRRT2
is asnp
is mentioned by
dbSNPrs772994486
ebirs772994486
HLIrs772994486
Exacrs772994486
Varsomers772994486
Maprs772994486
PheGenIrs772994486
hapmaprs772994486
1000 genomesrs772994486
hgdprs772994486
ensemblrs772994486
gopubmedrs772994486
geneviewrs772994486
scholarrs772994486
googlers772994486
pharmgkbrs772994486
gwascentralrs772994486
openSNPrs772994486
23andMers772994486
23andMe allrs772994486
SNP Nexus

SNPshotrs772994486
SNPdbers772994486
MSV3drs772994486
GWAS Ctlgrs772994486
Max Magnitude0
ClinVar
Risk rs772994486(GC,GCC;GC,GCC)
Alt rs772994486(GC,GCC;GC,GCC)
Reference rs772994486(G;G)
Significance Pathogenic
Disease Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis not provided Seizures
Variation info
Gene LOC100289283 PRRT2
CLNDBN Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis, familial not provided Seizures
Reversed 0
HGVS NC_000016.9:g.29825024dupC
CLNSRC
CLNACC RCV000055991.3, RCV000153783.3, RCV000188779.3, RCV000193894.1,