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 5
CUI: C0342196
Disease: Thyroid Dyshormonogenesis 5
3 0.925 0.120 15 45117274 stop gained C/G;T snv 1.4E-04; 1.7E-02 0.700 0
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.925 0.120 15 45117274 stop gained C/G;T snv 1.4E-04; 1.7E-02 0.020 1.000 2 2008 2011
Goiter
CUI: C0018021
Disease: Goiter
19 0.925 0.120 15 45117274 stop gained C/G;T snv 1.4E-04; 1.7E-02 0.010 1.000 1 2015 2015