rs137852685, NKX2-5

N. diseases: 2
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, 5 (disorder)
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
3 0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06 0.800 1.000 1 2006 2006
Thyroid Dysgenesis
CUI: C1563716
Disease: Thyroid Dysgenesis
5 0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06 0.010 1.000 1 2006 2006