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rs1057517162

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517162(-;-)
Make rs1057517162(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2166530
GeneTH
is asnp
is mentioned by
dbSNPrs1057517162
dbSNP (old)rs1057517162
ClinGenrs1057517162
ebirs1057517162
HLIrs1057517162
Exacrs1057517162
Gnomadrs1057517162
Varsomers1057517162
Maprs1057517162
PheGenIrs1057517162
Biobankrs1057517162
1000 genomesrs1057517162
hgdprs1057517162
ensemblrs1057517162
gopubmedrs1057517162
geneviewrs1057517162
scholarrs1057517162
googlers1057517162
pharmgkbrs1057517162
gwascentralrs1057517162
openSNPrs1057517162
23andMers1057517162
23andMe allrs1057517162
SNPshotrs1057517162
SNPdbers1057517162
MSV3drs1057517162
GWAS Ctlgrs1057517162
Max Magnitude0
ClinVar
Risk rs1057517162(-;-)
Alt rs1057517162(-;-)
Reference Rs1057517162(C;C)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187760delG
CLNSRC
CLNACC RCV000411713.1,