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rs730882067

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882067(-;-)
Make rs730882067(-;C)
Make rs730882067(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813683
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882067
ebirs730882067
HLIrs730882067
Exacrs730882067
Varsomers730882067
Maprs730882067
PheGenIrs730882067
hapmaprs730882067
1000 genomesrs730882067
hgdprs730882067
ensemblrs730882067
gopubmedrs730882067
geneviewrs730882067
scholarrs730882067
googlers730882067
pharmgkbrs730882067
gwascentralrs730882067
openSNPrs730882067
23andMers730882067
23andMe allrs730882067
SNP Nexus

SNPshotrs730882067
SNPdbers730882067
MSV3drs730882067
GWAS Ctlgrs730882067
Max Magnitude0
ClinVar
Risk rs730882067(C;C)
Alt rs730882067(C;C)
Reference rs730882067(;)
Significance Pathogenic
Disease Infantile convulsions and paroxysmal choreoathetosis not provided
Variation info
Gene LOC100289283 PRRT2
CLNDBN Infantile convulsions and paroxysmal choreoathetosis, familial not provided
Reversed 0
HGVS NC_000016.9:g.29825004dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024169.4, RCV000188767.1,