Disease: Short stature
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12