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rs730882065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
Make rs730882065(-;-)
Make rs730882065(-;TCTG)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position29813568
GenePRRT2
is asnp
is mentioned by
dbSNPrs730882065
dbSNP (classic)rs730882065
ClinGenrs730882065
ebirs730882065
HLIrs730882065
Exacrs730882065
Gnomadrs730882065
Varsomers730882065
LitVarrs730882065
Maprs730882065
PheGenIrs730882065
Biobankrs730882065
1000 genomesrs730882065
hgdprs730882065
ensemblrs730882065
geneviewrs730882065
scholarrs730882065
googlers730882065
pharmgkbrs730882065
gwascentralrs730882065
openSNPrs730882065
23andMers730882065
SNPshotrs730882065
SNPdbers730882065
MSV3drs730882065
GWAS Ctlgrs730882065
Max Magnitude0
ClinVar
Risk rs730882065(-;-)
Alt rs730882065(-;-)
Reference Rs730882065(TCTG;TCTG)
Significance Pathogenic
Disease Dystonia 10
Variation info
Gene LOC100289283 PRRT2
CLNDBN Dystonia 10
Reversed 0
HGVS NC_000016.9:g.29824889_29824892delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024167.4,