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: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs794727931
rs794727931
ALG8
19 0.790 0.240 11 78112692 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: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs797045412
rs797045412
BICD2
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 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: rs864309487
rs864309487
GMNN
20 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs730882245
rs730882245
KIAA1109
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs1553370918
rs1553370918
MYCN
6 0.851 0.360 2 15945602 frameshift variant TG/- delins 0.700 0
dbSNP: rs1553538917
rs1553538917
SATB2
7 0.882 0.120 2 199272423 stop gained G/A snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0