Disease: Short neck
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19