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rs387907125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907125(A;A)
Make rs387907125(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position29814403
GeneC16orf53, PRRT2
is asnp
is mentioned by
dbSNPrs387907125
ebirs387907125
HLIrs387907125
Exacrs387907125
Varsomers387907125
Maprs387907125
PheGenIrs387907125
hapmaprs387907125
1000 genomesrs387907125
hgdprs387907125
ensemblrs387907125
gopubmedrs387907125
geneviewrs387907125
scholarrs387907125
googlers387907125
pharmgkbrs387907125
gwascentralrs387907125
openSNPrs387907125
23andMers387907125
23andMe allrs387907125
SNP Nexus

SNPshotrs387907125
SNPdbers387907125
MSV3drs387907125
GWAS Ctlgrs387907125
Max Magnitude0
ClinVar
Risk rs387907125(A;A)
Alt rs387907125(A;A)
Reference rs387907125(G;G)
Significance Pathogenic
Disease Infantile convulsions and paroxysmal choreoathetosis
Variation info
Gene PAGR1 PRRT2
CLNDBN Infantile convulsions and paroxysmal choreoathetosis, familial
Reversed 0
HGVS NC_000016.9:g.29825724G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024170.3,