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rs1057516712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516712(-;-)
Make rs1057516712(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2167011
GeneTH
is asnp
is mentioned by
dbSNPrs1057516712
dbSNP (classic)rs1057516712
ClinGenrs1057516712
ebirs1057516712
HLIrs1057516712
Exacrs1057516712
Gnomadrs1057516712
Varsomers1057516712
LitVarrs1057516712
Maprs1057516712
PheGenIrs1057516712
Biobankrs1057516712
1000 genomesrs1057516712
hgdprs1057516712
ensemblrs1057516712
geneviewrs1057516712
scholarrs1057516712
googlers1057516712
pharmgkbrs1057516712
gwascentralrs1057516712
openSNPrs1057516712
23andMers1057516712
23andMe allrs1057516712
SNPshotrs1057516712
SNPdbers1057516712
MSV3drs1057516712
GWAS Ctlgrs1057516712
Max Magnitude0
ClinVar
Risk rs1057516712(-;-)
Alt rs1057516712(-;-)
Reference Rs1057516712(G;G)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2188241delC
CLNSRC
CLNACC RCV000409078.1,