Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309521
rs864309521
CUL7 ; KLC4
1.000 0.200 6 43043631 splice acceptor variant C/G snv
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.700 0
dbSNP: rs864309521
rs864309521
CUL7 ; KLC4
1.000 0.200 6 43043631 splice acceptor variant C/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0