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rs724159981

From SNPedia

Merged intors80358233
Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs724159981(-;-)
Make rs724159981(-;GAG)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position129814062
GeneTOR1A
is asnp
is mentioned by
dbSNPrs724159981
dbSNP (classic)rs724159981
ClinGenrs724159981
ebirs724159981
HLIrs724159981
Exacrs724159981
Gnomadrs724159981
Varsomers724159981
LitVarrs724159981
Maprs724159981
PheGenIrs724159981
Biobankrs724159981
1000 genomesrs724159981
hgdprs724159981
ensemblrs724159981
geneviewrs724159981
scholarrs724159981
googlers724159981
pharmgkbrs724159981
gwascentralrs724159981
openSNPrs724159981
23andMers724159981
SNPshotrs724159981
SNPdbers724159981
MSV3drs724159981
GWAS Ctlgrs724159981
StatusMerged into rs80358233
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs724159981(GAG;GAG)
Significance Pathogenic
Disease Dystonia 1 Dystonia
Variation info
Gene TOR1A
CLNDBN Dystonia 1 Dystonia
Reversed 1
HGVS NC_000009.11:g.132576341_132576343delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005488.4, RCV000227741.1,