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rs121917765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917765(G;T)
Make rs121917765(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2166544
GeneTH
is asnp
is mentioned by
dbSNPrs121917765
ebirs121917765
HLIrs121917765
Exacrs121917765
Varsomers121917765
Maprs121917765
PheGenIrs121917765
hapmaprs121917765
1000 genomesrs121917765
hgdprs121917765
ensemblrs121917765
gopubmedrs121917765
geneviewrs121917765
scholarrs121917765
googlers121917765
pharmgkbrs121917765
gwascentralrs121917765
openSNPrs121917765
23andMers121917765
23andMe allrs121917765
SNP Nexus

SNPshotrs121917765
SNPdbers121917765
MSV3drs121917765
GWAS Ctlgrs121917765
Max Magnitude0
OMIM191290
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121917765(T;T)
Alt rs121917765(T;T)
Reference rs121917765(G;G)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187774C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013127.17,