Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv 9
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 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
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 7
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 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
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv 5
rs140047318
BMPR1B
0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 3
rs77096466
GNAS
1.000 0.080 20 58905474 missense variant C/T snv 1