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.
Acquired hypothyroidism
CUI: C0700502
Disease: Acquired hypothyroidism
2 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2004 2004
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
Primary Hypothyroidism
CUI: C4316995
Disease: Primary Hypothyroidism
3 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2004 2004