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rs1057517423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517423(C;T)
Make rs1057517423(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2167909
GeneTH
is asnp
is mentioned by
dbSNPrs1057517423
dbSNP (old)rs1057517423
ClinGenrs1057517423
ebirs1057517423
HLIrs1057517423
Exacrs1057517423
Gnomadrs1057517423
Varsomers1057517423
Maprs1057517423
PheGenIrs1057517423
Biobankrs1057517423
1000 genomesrs1057517423
hgdprs1057517423
ensemblrs1057517423
gopubmedrs1057517423
geneviewrs1057517423
scholarrs1057517423
googlers1057517423
pharmgkbrs1057517423
gwascentralrs1057517423
openSNPrs1057517423
23andMers1057517423
23andMe allrs1057517423
SNPshotrs1057517423
SNPdbers1057517423
MSV3drs1057517423
GWAS Ctlgrs1057517423
Max Magnitude0
ClinVar
Risk rs1057517423(T;T)
Alt rs1057517423(T;T)
Reference Rs1057517423(C;C)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2189139G>A
CLNSRC
CLNACC RCV000411945.1,