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rs387907176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907176(A;G)
Make rs387907176(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position42843025
GeneTHAP1
is asnp
is mentioned by
dbSNPrs387907176
ebirs387907176
HLIrs387907176
Exacrs387907176
Varsomers387907176
Maprs387907176
PheGenIrs387907176
hapmaprs387907176
1000 genomesrs387907176
hgdprs387907176
ensemblrs387907176
gopubmedrs387907176
geneviewrs387907176
scholarrs387907176
googlers387907176
pharmgkbrs387907176
gwascentralrs387907176
openSNPrs387907176
23andMers387907176
23andMe allrs387907176
SNP Nexus

SNPshotrs387907176
SNPdbers387907176
MSV3drs387907176
GWAS Ctlgrs387907176
Max Magnitude0
ClinVar
Risk rs387907176(G;G)
Alt rs387907176(G;G)
Reference rs387907176(A;A)
Significance Pathogenic
Disease Dystonia 6
Variation info
Gene THAP1
CLNDBN Dystonia 6, torsion
Reversed 1
HGVS NC_000008.10:g.42698168T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024329.2,