NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852685
rs137852685 		0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs137852684
rs137852684 		0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2006 2006