Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
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
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26