rs191759494, DUOX2

N. diseases: 3
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.
Familial thyroid dyshormonogenesis
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
2 0.882 0.120 15 45108159 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.700 1.000 5 2011 2017
Thyroid Dyshormonogenesis 6
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
15 0.882 0.120 15 45108159 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.700 1.000 5 2011 2017
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.882 0.120 15 45108159 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2016 2016