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rs1057518950

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518950(C;T)
Make rs1057518950(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position1484815
GeneTPO
is asnp
is mentioned by
dbSNPrs1057518950
dbSNP (old)rs1057518950
ClinGenrs1057518950
ebirs1057518950
HLIrs1057518950
Exacrs1057518950
Gnomadrs1057518950
Varsomers1057518950
Maprs1057518950
PheGenIrs1057518950
Biobankrs1057518950
1000 genomesrs1057518950
hgdprs1057518950
ensemblrs1057518950
gopubmedrs1057518950
geneviewrs1057518950
scholarrs1057518950
googlers1057518950
pharmgkbrs1057518950
gwascentralrs1057518950
openSNPrs1057518950
23andMers1057518950
23andMe allrs1057518950
SNPshotrs1057518950
SNPdbers1057518950
MSV3drs1057518950
GWAS Ctlgrs1057518950
Max Magnitude0
ClinVar
Risk rs1057518950(T;T)
Alt rs1057518950(T;T)
Reference Rs1057518950(C;C)
Significance Probable-Pathogenic
Disease Congenital hypothyroidism Delayed gross motor development Delayed speech and language development Global developmental delay Intellectual disability Protruding tongue Short stature
Variation info
Gene TPO
CLNDBN Congenital hypothyroidism Delayed gross motor development Delayed speech and language development Global developmental delay Intellectual disability, severe Protruding tongue Short stature
Reversed 0
HGVS NC_000002.11:g.1488587C>T
CLNSRC
CLNACC RCV000415396.1,