rs759244819, ALG12

N. diseases: 3
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 clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0
Congenital disorder of glycosylation type 1G
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
10 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0
Rhizomelia
CUI: C1866730
Disease: Rhizomelia
6 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0