Disease: Micrognathism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7