Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 24
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15