Disease: Clinodactyly of the 5th finger
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24