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.
Congenital hyperthyroidism
CUI: C1262098
Disease: Congenital hyperthyroidism
3 0.882 0.040 14 81143641 missense variant G/A snv 8.0E-05 2.1E-05 0.010 1.000 1 1998 1998
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.882 0.040 14 81143641 missense variant G/A snv 8.0E-05 2.1E-05 0.010 1.000 1 1998 1998
Hyperthyroidism
CUI: C0020550
Disease: Hyperthyroidism
27 0.882 0.040 14 81143641 missense variant G/A snv 8.0E-05 2.1E-05 0.010 1.000 1 1998 1998