PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Dysautonomia ×
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: rs104893856
rs104893856 		0.827 0.080 4 41746162 missense variant C/T snv
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		Nervous System Diseases 0.010 < 0.001 1 2006 2006