Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs886039795
TMEM256-PLSCR3 ; TMEM256
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 10
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
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
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
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv 7
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv 6
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6
rs387906836
TULP1
0.851 0.080 6 35503763 missense variant G/A snv 5