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rs730882072

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882072(-;-)
Make rs730882072(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813683
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882072
ebirs730882072
HLIrs730882072
Exacrs730882072
Varsomers730882072
Maprs730882072
PheGenIrs730882072
hapmaprs730882072
1000 genomesrs730882072
hgdprs730882072
ensemblrs730882072
gopubmedrs730882072
geneviewrs730882072
scholarrs730882072
googlers730882072
pharmgkbrs730882072
gwascentralrs730882072
openSNPrs730882072
23andMers730882072
23andMe allrs730882072
SNP Nexus

SNPshotrs730882072
SNPdbers730882072
MSV3drs730882072
GWAS Ctlgrs730882072
Max Magnitude0
ClinVar
Risk rs730882072(;)
Alt rs730882072(;)
Reference rs730882072(C;C)
Significance Pathogenic
Disease Seizures
Variation info
Gene LOC100289283 PRRT2
CLNDBN Seizures, benign familial infantile, 2
Reversed 0
HGVS NC_000016.9:g.29825004delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032972.4,