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: rs121908085
rs121908085
TPO
1.000 0.120 2 1503956 missense variant G/A snv 8.0E-06 4.9E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 4 1995 2016
dbSNP: rs121908088
rs121908088
TPO
0.925 0.160 2 1494011 stop gained C/G;T snv 3.2E-04
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 4 1995 2016
dbSNP: rs104893669
rs104893669
TPO
1.000 0.120 2 1484596 missense variant A/G;T snv
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 0 1995 2016
dbSNP: rs121908083
rs121908083
TPO
0.925 0.120 2 1484614 missense variant T/G snv 1.0E-04 1.3E-04
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 0 1995 2016
dbSNP: rs121908084
rs121908084
TPO
1.000 0.120 2 1487991 missense variant G/A;C snv
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 0 1995 2016
dbSNP: rs121908086
rs121908086
TPO
0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 0 1995 2016
dbSNP: rs121908087
rs121908087
TPO
1.000 0.120 2 1496059 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.800 1.000 0 1995 2016
dbSNP: rs763941231
rs763941231
TPO
1.000 0.120 2 1477447 frameshift variant -/GCCG delins 4.9E-04 6.0E-04
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 1.000 5 1992 2016
dbSNP: rs763662774
rs763662774
TPO
1.000 0.120 2 1503983 frameshift variant T/- del 8.4E-05 9.8E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 1.000 4 2000 2014
dbSNP: rs140124953
rs140124953
TPO
1.000 0.120 2 1494027 missense variant G/A;C snv 2.8E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 1.000 2 2002 2003
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs121908082
rs121908082
TPO
0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 0
dbSNP: rs1558307375
rs1558307375
TPO
1.000 0.120 2 1456222 frameshift variant -/G delins
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 0
dbSNP: rs760307139
rs760307139
TPO
1.000 0.120 2 1503976 frameshift variant C/-;CC delins 7.1E-06
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		0.700 0