Disease: Multiple pterygium syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912670
CHRNG
0.925 0.120 2 232542992 missense variant C/T snv 1.6E-05 1.4E-05 2
rs267606726
CHRNG
0.925 0.120 2 232540681 missense variant T/G snv 2
rs764266722
CHRNG
0.925 0.120 2 232540387 stop gained C/A;T snv 8.0E-06; 2.0E-05 2
rs767503038
CHRNG
0.925 0.120 2 232543030 frameshift variant CT/- del 2.6E-04 2