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rs387907127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907127(C;T)
Make rs387907127(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29813541
GeneCDC45, PRRT2
is asnp
is mentioned by
dbSNPrs387907127
ebirs387907127
HLIrs387907127
Exacrs387907127
Varsomers387907127
Maprs387907127
PheGenIrs387907127
hapmaprs387907127
1000 genomesrs387907127
hgdprs387907127
ensemblrs387907127
gopubmedrs387907127
geneviewrs387907127
scholarrs387907127
googlers387907127
pharmgkbrs387907127
gwascentralrs387907127
openSNPrs387907127
23andMers387907127
23andMe allrs387907127
SNP Nexus

SNPshotrs387907127
SNPdbers387907127
MSV3drs387907127
GWAS Ctlgrs387907127
Max Magnitude0
ClinVar
Risk rs387907127(T;T)
Alt rs387907127(T;T)
Reference rs387907127(C;C)
Significance Pathogenic
Disease Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis not provided
Variation info
Gene LOC100289283 PRRT2
CLNDBN Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis, familial not provided
Reversed 0
HGVS NC_000016.9:g.29824862C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024174.3, RCV000024175.3, RCV000188764.1,