Disease: Short neck
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24