rs121917713, GLI3

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.
Greig cephalopolysyndactyly syndrome
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
19 0.882 0.160 7 42040198 stop gained G/A snv 0.700 0
Pallister-Hall syndrome
CUI: C0265220
Disease: Pallister-Hall syndrome
39 0.882 0.160 7 42040198 stop gained G/A snv 0.700 0
Polydactyly, preaxial 4
CUI: C1868111
Disease: Polydactyly, preaxial 4
1 0.882 0.160 7 42040198 stop gained G/A snv 0.700 0