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rs1057516819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516819(A;A)
Make rs1057516819(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2166001
GeneTH
is asnp
is mentioned by
dbSNPrs1057516819
dbSNP (old)rs1057516819
ClinGenrs1057516819
ebirs1057516819
HLIrs1057516819
Exacrs1057516819
Gnomadrs1057516819
Varsomers1057516819
LitVarrs1057516819
Maprs1057516819
PheGenIrs1057516819
Biobankrs1057516819
1000 genomesrs1057516819
hgdprs1057516819
ensemblrs1057516819
gopubmedrs1057516819
geneviewrs1057516819
scholarrs1057516819
googlers1057516819
pharmgkbrs1057516819
gwascentralrs1057516819
openSNPrs1057516819
23andMers1057516819
23andMe allrs1057516819
SNPshotrs1057516819
SNPdbers1057516819
MSV3drs1057516819
GWAS Ctlgrs1057516819
Max Magnitude0
ClinVar
Risk rs1057516819(A;A)
Alt rs1057516819(A;A)
Reference Rs1057516819(G;G)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187231C>T
CLNSRC
CLNACC RCV000410415.1,