Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs886039795
TMEM256-PLSCR3 ; TMEM256
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 10