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rs397514579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514579(C;T)
Make rs397514579(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29813802
GeneLOC100289283, PRRT2
is asnp
is mentioned by
dbSNPrs397514579
ebirs397514579
HLIrs397514579
Exacrs397514579
Varsomers397514579
Maprs397514579
PheGenIrs397514579
hapmaprs397514579
1000 genomesrs397514579
hgdprs397514579
ensemblrs397514579
gopubmedrs397514579
geneviewrs397514579
scholarrs397514579
googlers397514579
pharmgkbrs397514579
gwascentralrs397514579
openSNPrs397514579
23andMers397514579
23andMe allrs397514579
SNP Nexus

SNPshotrs397514579
SNPdbers397514579
MSV3drs397514579
GWAS Ctlgrs397514579
Max Magnitude0
ClinVar
Risk rs397514579(T;T)
Alt rs397514579(T;T)
Reference rs397514579(C;C)
Significance Pathogenic
Disease Dystonia 10 Seizures
Variation info
Gene LOC100289283 PRRT2
CLNDBN Dystonia 10 Seizures, benign familial infantile, 2
Reversed 0
HGVS NC_000016.9:g.29825123C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032974.3, RCV000032975.3,