Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
9 0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
9 0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs180177039
rs180177039
BRAF
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
dbSNP: rs779027563
rs779027563
CNTNAP1
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs1556411578
rs1556411578
COL4A5
4 X 108595507 coding sequence variant AAGGTGACA/- delins 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
15 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
8 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
dbSNP: rs1566911709
rs1566911709
FBN1
15 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
dbSNP: rs1566913974
rs1566913974
FBN1
8 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
dbSNP: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918494
rs121918494
FGFR2
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs864309486
rs864309486
GMNN
21 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0