Disease: Disproportionate short-limb short stature
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs1057518911
COL2A1
12 47976531 missense variant C/G snv 2