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rs387907128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907128(C;T)
Make rs387907128(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29813850
GenePRRT2
is asnp
is mentioned by
dbSNPrs387907128
dbSNP (classic)rs387907128
ClinGenrs387907128
ebirs387907128
HLIrs387907128
Exacrs387907128
Gnomadrs387907128
Varsomers387907128
LitVarrs387907128
Maprs387907128
PheGenIrs387907128
Biobankrs387907128
1000 genomesrs387907128
hgdprs387907128
ensemblrs387907128
geneviewrs387907128
scholarrs387907128
googlers387907128
pharmgkbrs387907128
gwascentralrs387907128
openSNPrs387907128
23andMers387907128
SNPshotrs387907128
SNPdbers387907128
MSV3drs387907128
GWAS Ctlgrs387907128
Max Magnitude0
ClinVar
Risk rs387907128(T;T)
Alt rs387907128(T;T)
Reference Rs387907128(C;C)
Significance Pathogenic
Disease Dystonia 10
Variation info
Gene LOC100289283 PRRT2
CLNDBN Dystonia 10
Reversed 0
HGVS NC_000016.9:g.29825171C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024176.3,