rs1057518950, TPO

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Protrusion of tongue
CUI: C0241442
Disease: Protrusion of tongue
4 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
Delayed speech and language development
192 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0