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rs1057517003

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517003(C;C)
Make rs1057517003(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2168489
GeneTH
is asnp
is mentioned by
dbSNPrs1057517003
dbSNP (old)rs1057517003
ClinGenrs1057517003
ebirs1057517003
HLIrs1057517003
Exacrs1057517003
Gnomadrs1057517003
Varsomers1057517003
Maprs1057517003
PheGenIrs1057517003
Biobankrs1057517003
1000 genomesrs1057517003
hgdprs1057517003
ensemblrs1057517003
gopubmedrs1057517003
geneviewrs1057517003
scholarrs1057517003
googlers1057517003
pharmgkbrs1057517003
gwascentralrs1057517003
openSNPrs1057517003
23andMers1057517003
23andMe allrs1057517003
SNPshotrs1057517003
SNPdbers1057517003
MSV3drs1057517003
GWAS Ctlgrs1057517003
Max Magnitude0
ClinVar
Risk rs1057517003(C;C)
Alt rs1057517003(C;C)
Reference Rs1057517003(T;T)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2189719A>G
CLNSRC
CLNACC RCV000409354.1,