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rs1057516491

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516491(-;-)
Make rs1057516491(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2166689
GeneTH
is asnp
is mentioned by
dbSNPrs1057516491
dbSNP (old)rs1057516491
ClinGenrs1057516491
ebirs1057516491
HLIrs1057516491
Exacrs1057516491
Gnomadrs1057516491
Varsomers1057516491
Maprs1057516491
PheGenIrs1057516491
Biobankrs1057516491
1000 genomesrs1057516491
hgdprs1057516491
ensemblrs1057516491
gopubmedrs1057516491
geneviewrs1057516491
scholarrs1057516491
googlers1057516491
pharmgkbrs1057516491
gwascentralrs1057516491
openSNPrs1057516491
23andMers1057516491
23andMe allrs1057516491
SNPshotrs1057516491
SNPdbers1057516491
MSV3drs1057516491
GWAS Ctlgrs1057516491
Max Magnitude0
ClinVar
Risk rs1057516491(-;-)
Alt rs1057516491(-;-)
Reference Rs1057516491(G;G)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187919delC
CLNSRC
CLNACC RCV000412367.1,