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rs45471299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45471299(C;T)
Make rs45471299(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2164339
GeneTH
is asnp
is mentioned by
dbSNPrs45471299
ebirs45471299
HLIrs45471299
Exacrs45471299
Varsomers45471299
Maprs45471299
PheGenIrs45471299
hapmaprs45471299
1000 genomesrs45471299
hgdprs45471299
ensemblrs45471299
gopubmedrs45471299
geneviewrs45471299
scholarrs45471299
googlers45471299
pharmgkbrs45471299
gwascentralrs45471299
openSNPrs45471299
23andMers45471299
23andMe allrs45471299
SNP Nexus

SNPshotrs45471299
SNPdbers45471299
MSV3drs45471299
GWAS Ctlgrs45471299
Max Magnitude0
OMIM191290
Desc
Variant0005
Relatedalso


ClinVar
Risk rs45471299(T;T)
Alt rs45471299(T;T)
Reference rs45471299(C;C)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2185569G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013119.17,