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rs387907126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907126(C;T)
Make rs387907126(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29813772
GeneCDC45, PRRT2
is asnp
is mentioned by
dbSNPrs387907126
ebirs387907126
HLIrs387907126
Exacrs387907126
Varsomers387907126
Maprs387907126
PheGenIrs387907126
hapmaprs387907126
1000 genomesrs387907126
hgdprs387907126
ensemblrs387907126
gopubmedrs387907126
geneviewrs387907126
scholarrs387907126
googlers387907126
pharmgkbrs387907126
gwascentralrs387907126
openSNPrs387907126
23andMers387907126
23andMe allrs387907126
SNP Nexus

SNPshotrs387907126
SNPdbers387907126
MSV3drs387907126
GWAS Ctlgrs387907126
Max Magnitude0
ClinVar
Risk rs387907126(T;T)
Alt rs387907126(T;T)
Reference rs387907126(C;C)
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.29825093C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024172.3,