rs587776626, 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 41746133 frameshift variant -/G delins 0.700 0