NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2 ×
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: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.800 0