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rs587778771

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587778771(-;-)
Make rs587778771(-;C)
Make rs587778771(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813703
GenePRRT2
is asnp
is mentioned by
dbSNPrs587778771
ebirs587778771
HLIrs587778771
Exacrs587778771
Varsomers587778771
Maprs587778771
PheGenIrs587778771
hapmaprs587778771
1000 genomesrs587778771
hgdprs587778771
ensemblrs587778771
gopubmedrs587778771
geneviewrs587778771
scholarrs587778771
googlers587778771
pharmgkbrs587778771
gwascentralrs587778771
openSNPrs587778771
23andMers587778771
23andMe allrs587778771
SNP Nexus

SNPshotrs587778771
SNPdbers587778771
MSV3drs587778771
GWAS Ctlgrs587778771
Max Magnitude0
ClinVar
Risk rs587778771(C;C)
Alt rs587778771(C;C)
Reference rs587778771(;)
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,