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rs730882124

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882124(-;-)
Make rs730882124(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813704
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882124
ebirs730882124
HLIrs730882124
Exacrs730882124
Varsomers730882124
Maprs730882124
PheGenIrs730882124
hapmaprs730882124
1000 genomesrs730882124
hgdprs730882124
ensemblrs730882124
gopubmedrs730882124
geneviewrs730882124
scholarrs730882124
googlers730882124
pharmgkbrs730882124
gwascentralrs730882124
openSNPrs730882124
23andMers730882124
23andMe allrs730882124
SNP Nexus

SNPshotrs730882124
SNPdbers730882124
MSV3drs730882124
GWAS Ctlgrs730882124
Max Magnitude0
ClinVar
Risk rs730882124(;)
Alt rs730882124(;)
Reference rs730882124(G;G)
Significance Pathogenic
Disease Seizures
Variation info
Gene LOC100289283 PRRT2
CLNDBN Seizures, benign familial infantile, 2
Reversed 0
HGVS NC_000016.9:g.29825025delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000161142.3,