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rs121917764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917764(C;T)
Make rs121917764(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2166762
GeneTH
is asnp
is mentioned by
dbSNPrs121917764
ebirs121917764
HLIrs121917764
Exacrs121917764
Varsomers121917764
Maprs121917764
PheGenIrs121917764
hapmaprs121917764
1000 genomesrs121917764
hgdprs121917764
ensemblrs121917764
gopubmedrs121917764
geneviewrs121917764
scholarrs121917764
googlers121917764
pharmgkbrs121917764
gwascentralrs121917764
openSNPrs121917764
23andMers121917764
23andMe allrs121917764
SNP Nexus

SNPshotrs121917764
SNPdbers121917764
MSV3drs121917764
GWAS Ctlgrs121917764
Max Magnitude0
OMIM191290
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121917764(T;T)
Alt rs121917764(T;T)
Reference rs121917764(C;C)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187992G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013123.17,