rs530719719, 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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 1.000 15 2002 2017
Familial thyroid dyshormonogenesis
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
2 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 1.000 9 2002 2018
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 0