rs748793969, DUOX2

N. diseases: 5
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.
Thyroid Dyshormonogenesis 6
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
15 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.700 1.000 3 2008 2017
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.010 1.000 1 2016 2016
Generalized Thyroid Hormone Resistance
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
34 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.010 1.000 1 2017 2017
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
19 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.010 1.000 1 2017 2017
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
CUI: C2940785
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
1 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.010 1.000 1 2017 2017