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rs730882071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882071(-;-)
Make rs730882071(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813703
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882071
dbSNP (classic)rs730882071
ClinGenrs730882071
ebirs730882071
HLIrs730882071
Exacrs730882071
Gnomadrs730882071
Varsomers730882071
LitVarrs730882071
Maprs730882071
PheGenIrs730882071
Biobankrs730882071
1000 genomesrs730882071
hgdprs730882071
ensemblrs730882071
geneviewrs730882071
scholarrs730882071
googlers730882071
pharmgkbrs730882071
gwascentralrs730882071
openSNPrs730882071
23andMers730882071
SNPshotrs730882071
SNPdbers730882071
MSV3drs730882071
GWAS Ctlgrs730882071
Max Magnitude0
ClinVar
Risk rs730882071(-;-)
Alt rs730882071(-;-)
Reference Rs730882071(C;C)
Significance Pathogenic
Disease Dystonia 10 not provided
Variation info
Gene LOC100289283 PRRT2
CLNDBN Dystonia 10 not provided
Reversed 0
HGVS NC_000016.9:g.29825024delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032970.4, RCV000188778.3,