rs864309521, KLC4;CUL7

N. diseases: 2
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.
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 1.000 0.200 6 43043631 splice acceptor variant C/G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.200 6 43043631 splice acceptor variant C/G snv 0.700 0