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rs387907177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907177(A;C)
Make rs387907177(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position42843027
GeneTHAP1
is asnp
is mentioned by
dbSNPrs387907177
ebirs387907177
HLIrs387907177
Exacrs387907177
Varsomers387907177
Maprs387907177
PheGenIrs387907177
hapmaprs387907177
1000 genomesrs387907177
hgdprs387907177
ensemblrs387907177
gopubmedrs387907177
geneviewrs387907177
scholarrs387907177
googlers387907177
pharmgkbrs387907177
gwascentralrs387907177
openSNPrs387907177
23andMers387907177
23andMe allrs387907177
SNP Nexus

SNPshotrs387907177
SNPdbers387907177
MSV3drs387907177
GWAS Ctlgrs387907177
Max Magnitude0
ClinVar
Risk rs387907177(C;C)
Alt rs387907177(C;C)
Reference rs387907177(A;A)
Significance Pathogenic
Disease Dystonia 6
Variation info
Gene THAP1
CLNDBN Dystonia 6, torsion
Reversed 1
HGVS NC_000008.10:g.42698170T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024330.2,