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 3
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
16 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.700 1.000 6 1999 2016
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.020 1.000 2 2008 2009
Congenital goiter
CUI: C0349476
Disease: Congenital goiter
3 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2008 2008
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2009 2009