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.
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
19 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.700 1.000 4 1996 2004
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003