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, DUE TO THYROID DYSGENESIS
7 0.851 0.120 2 113246826 missense variant T/G snv 0.800 1.000 3 1998 2001
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.851 0.120 2 113246826 missense variant T/G snv 0.010 1.000 1 2001 2001
Congenital thyroid hypoplasia
CUI: C0342153
Disease: Congenital thyroid hypoplasia
5 0.851 0.120 2 113246826 missense variant T/G snv 0.010 1.000 1 2001 2001
Thyroid Hypoplasia
CUI: C0151516
Disease: Thyroid Hypoplasia
6 0.851 0.120 2 113246826 missense variant T/G snv 0.010 1.000 1 2001 2001