rs17884724, PHOX2B

N. diseases: 1
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.
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
15 1.000 0.120 4 41745990 synonymous variant T/C;G snv 2.8E-04; 4.7E-05; 4.7E-05; 5.7E-03; 9.3E-05 3.4E-02 0.010 1.000 1 2010 2010