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rs121917763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917763(C;C)
Make rs121917763(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2167896
GeneTH
is asnp
is mentioned by
dbSNPrs121917763
ebirs121917763
HLIrs121917763
Exacrs121917763
Varsomers121917763
Maprs121917763
PheGenIrs121917763
hapmaprs121917763
1000 genomesrs121917763
hgdprs121917763
ensemblrs121917763
gopubmedrs121917763
geneviewrs121917763
scholarrs121917763
googlers121917763
pharmgkbrs121917763
gwascentralrs121917763
openSNPrs121917763
23andMers121917763
23andMe allrs121917763
SNP Nexus

SNPshotrs121917763
SNPdbers121917763
MSV3drs121917763
GWAS Ctlgrs121917763
Max Magnitude0
OMIM191290
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917763(C;C)
Alt rs121917763(C;C)
Reference rs121917763(T;T)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2189126A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013118.25,