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rs397514578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514578(C;T)
Make rs397514578(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29813616
GeneLOC100289283, PRRT2
is asnp
is mentioned by
dbSNPrs397514578
ebirs397514578
HLIrs397514578
Exacrs397514578
Varsomers397514578
Maprs397514578
PheGenIrs397514578
hapmaprs397514578
1000 genomesrs397514578
hgdprs397514578
ensemblrs397514578
gopubmedrs397514578
geneviewrs397514578
scholarrs397514578
googlers397514578
pharmgkbrs397514578
gwascentralrs397514578
openSNPrs397514578
23andMers397514578
23andMe allrs397514578
SNP Nexus

SNPshotrs397514578
SNPdbers397514578
MSV3drs397514578
GWAS Ctlgrs397514578
Max Magnitude0
ClinVar
Risk rs397514578(T;T)
Alt rs397514578(T;T)
Reference rs397514578(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.29824937C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032971.3,