Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins 9
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs886039795
TMEM256-PLSCR3 ; TMEM256
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 10
rs199566527
NOG
0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 3
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs77096466
GNAS
1.000 0.080 20 58905474 missense variant C/T snv 1
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv 9
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7