Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917709
rs121917709
GLI3
3 0.882 0.160 7 41972513 stop gained G/A snv 0.700 0
dbSNP: rs398122899
rs398122899
GLI3
1 1.000 7 41978629 frameshift variant CT/- delins 0.700 0