rs552057730, RET

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 10 43111238 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 3 1998 2003