rs1218564193, AR

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.
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
12 1.000 0.320 X 67686093 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011