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rs121917762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917762(A;A)
Make rs121917762(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2165727
GeneTH
is asnp
is mentioned by
dbSNPrs121917762
ebirs121917762
HLIrs121917762
Exacrs121917762
Varsomers121917762
Maprs121917762
PheGenIrs121917762
hapmaprs121917762
1000 genomesrs121917762
hgdprs121917762
ensemblrs121917762
gopubmedrs121917762
geneviewrs121917762
scholarrs121917762
googlers121917762
pharmgkbrs121917762
gwascentralrs121917762
openSNPrs121917762
23andMers121917762
23andMe allrs121917762
SNP Nexus

SNPshotrs121917762
SNPdbers121917762
MSV3drs121917762
GWAS Ctlgrs121917762
Max Magnitude0
OMIM191290
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917762(A;A)
Alt rs121917762(A;A)
Reference rs121917762(C;C)
Significance Pathogenic
Disease Segawa syndrome Dystonia
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive Dystonia
Reversed 1
HGVS NC_000011.9:g.2186957G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013117.22, RCV000229249.1,