rs267606667, PAH;ASCL1

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 12 102958296 missense variant C/A snv 0.700 0