Disease: Delayed bone age
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8
rs1559155800
OBSL1
1.000 0.200 2 219568150 missense variant C/T snv 7