rs1555545033, THRA

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.160 17 40088306 missense variant C/T snv 0.700 1.000 9 2012 2016
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
CUI: C3280817
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
7 0.807 0.160 17 40088306 missense variant C/T snv 0.700 1.000 4 2012 2015
Anemia
CUI: C0002871
Disease: Anemia
94 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2014 2014
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2014 2014
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2017 2017
Generalized Thyroid Hormone Resistance
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
34 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2014 2014
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2017 2017