Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
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
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6