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rs267607112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607112(G;T)
Make rs267607112(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position42843070
GeneTHAP1
is asnp
is mentioned by
dbSNPrs267607112
ebirs267607112
HLIrs267607112
Exacrs267607112
Varsomers267607112
Maprs267607112
PheGenIrs267607112
hapmaprs267607112
1000 genomesrs267607112
hgdprs267607112
ensemblrs267607112
gopubmedrs267607112
geneviewrs267607112
scholarrs267607112
googlers267607112
pharmgkbrs267607112
gwascentralrs267607112
openSNPrs267607112
23andMers267607112
23andMe allrs267607112
SNP Nexus

SNPshotrs267607112
SNPdbers267607112
MSV3drs267607112
GWAS Ctlgrs267607112
Max Magnitude0
ClinVar
Risk rs267607112(T;T)
Alt rs267607112(T;T)
Reference rs267607112(G;G)
Significance Pathogenic
Disease Dystonia 6
Variation info
Gene THAP1
CLNDBN Dystonia 6, torsion
Reversed 1
HGVS NC_000008.10:g.42698213C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001718.3,