Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
Delayed speech and language development
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
Severe mental retardation (I.Q. 20-34)
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
0.700 1 2015 2015