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rs267607111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607111(A;G)
Make rs267607111(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position42839187
GeneTHAP1
is asnp
is mentioned by
dbSNPrs267607111
ebirs267607111
HLIrs267607111
Exacrs267607111
Varsomers267607111
Maprs267607111
PheGenIrs267607111
hapmaprs267607111
1000 genomesrs267607111
hgdprs267607111
ensemblrs267607111
gopubmedrs267607111
geneviewrs267607111
scholarrs267607111
googlers267607111
pharmgkbrs267607111
gwascentralrs267607111
openSNPrs267607111
23andMers267607111
23andMe allrs267607111
SNP Nexus

SNPshotrs267607111
SNPdbers267607111
MSV3drs267607111
GWAS Ctlgrs267607111
Max Magnitude0
ClinVar
Risk rs267607111(G;G)
Alt rs267607111(G;G)
Reference rs267607111(A;A)
Significance Pathogenic
Disease Dystonia 6
Variation info
Gene THAP1
CLNDBN Dystonia 6, torsion
Reversed 1
HGVS NC_000008.10:g.42694330T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001715.2,