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rs1057516736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516736(A;A)
Make rs1057516736(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2166632
GeneTH
is asnp
is mentioned by
dbSNPrs1057516736
dbSNP (old)rs1057516736
ClinGenrs1057516736
ebirs1057516736
HLIrs1057516736
Exacrs1057516736
Gnomadrs1057516736
Varsomers1057516736
LitVarrs1057516736
Maprs1057516736
PheGenIrs1057516736
Biobankrs1057516736
1000 genomesrs1057516736
hgdprs1057516736
ensemblrs1057516736
gopubmedrs1057516736
geneviewrs1057516736
scholarrs1057516736
googlers1057516736
pharmgkbrs1057516736
gwascentralrs1057516736
openSNPrs1057516736
23andMers1057516736
23andMe allrs1057516736
SNPshotrs1057516736
SNPdbers1057516736
MSV3drs1057516736
GWAS Ctlgrs1057516736
Max Magnitude0
ClinVar
Risk rs1057516736(A;A)
Alt rs1057516736(A;A)
Reference Rs1057516736(G;G)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187862C>T
CLNSRC
CLNACC RCV000410635.1,