rs121917714, GLI3

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.
Greig cephalopolysyndactyly syndrome
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
19 0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06 0.710 1.000 1 2016 2016
POLYDACTYLY, POSTAXIAL
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
7 0.925 0.080 7 41967653 stop gained G/A snv 4.0E-06 0.010 1.000 1 2016 2016