Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518950
rs1057518950
TPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
Delayed speech and language development
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0349588
Disease: Short stature
Short stature
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
T 0.700 GeneticVariation CLINVAR