Disease: Dwarfism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs121917883
GHSR
0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 4
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv 4