Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
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
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
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63