Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882073

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882073(-;-)
Make rs730882073(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813345
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882073
ebirs730882073
HLIrs730882073
Exacrs730882073
Varsomers730882073
Maprs730882073
PheGenIrs730882073
hapmaprs730882073
1000 genomesrs730882073
hgdprs730882073
ensemblrs730882073
gopubmedrs730882073
geneviewrs730882073
scholarrs730882073
googlers730882073
pharmgkbrs730882073
gwascentralrs730882073
openSNPrs730882073
23andMers730882073
23andMe allrs730882073
SNP Nexus

SNPshotrs730882073
SNPdbers730882073
MSV3drs730882073
GWAS Ctlgrs730882073
Max Magnitude0
ClinVar
Risk rs730882073(;)
Alt rs730882073(;)
Reference rs730882073(C;C)
Significance Pathogenic
Disease Seizures
Variation info
Gene LOC100289283 PRRT2
CLNDBN Seizures, benign familial infantile, 2
Reversed 0
HGVS NC_000016.9:g.29824666delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032973.4,