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rs730882068

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882068(-;-)
Make rs730882068(-;T)
Make rs730882068(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813570
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882068
ebirs730882068
HLIrs730882068
Exacrs730882068
Varsomers730882068
Maprs730882068
PheGenIrs730882068
hapmaprs730882068
1000 genomesrs730882068
hgdprs730882068
ensemblrs730882068
gopubmedrs730882068
geneviewrs730882068
scholarrs730882068
googlers730882068
pharmgkbrs730882068
gwascentralrs730882068
openSNPrs730882068
23andMers730882068
23andMe allrs730882068
SNP Nexus

SNPshotrs730882068
SNPdbers730882068
MSV3drs730882068
GWAS Ctlgrs730882068
Max Magnitude0
ClinVar
Risk rs730882068(T;T)
Alt rs730882068(T;T)
Reference Rs730882068(;)
Significance Pathogenic
Disease Infantile convulsions and paroxysmal choreoathetosis
Variation info
Gene LOC100289283 PRRT2
CLNDBN Infantile convulsions and paroxysmal choreoathetosis, familial
Reversed 0
HGVS NC_000016.9:g.29824891dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024173.4,