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rs118204013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204013(C;C)
Make rs118204013(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position42839212
GeneTHAP1
is asnp
is mentioned by
dbSNPrs118204013
ebirs118204013
HLIrs118204013
Exacrs118204013
Varsomers118204013
Maprs118204013
PheGenIrs118204013
hapmaprs118204013
1000 genomesrs118204013
hgdprs118204013
ensemblrs118204013
gopubmedrs118204013
geneviewrs118204013
scholarrs118204013
googlers118204013
pharmgkbrs118204013
gwascentralrs118204013
openSNPrs118204013
23andMers118204013
23andMe allrs118204013
SNP Nexus

SNPshotrs118204013
SNPdbers118204013
MSV3drs118204013
GWAS Ctlgrs118204013
Max Magnitude0
OMIM609520
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204013(C;C)
Alt rs118204013(C;C)
Reference rs118204013(T;T)
Significance Pathogenic
Disease Dystonia 6
Variation info
Gene THAP1
CLNDBN Dystonia 6, torsion
Reversed 1
HGVS NC_000008.10:g.42694355A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001713.2,