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: rs1414334
rs1414334
HTR2C
5 0.851 0.160 X 114903581 intron variant C/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1057518850
rs1057518850
FMR1
2 1.000 0.040 X 147928320 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1569485503
rs1569485503
NLGN3
2 1.000 0.040 X 71167697 missense variant C/T snv 0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs727504031
rs727504031
NDP ; NDP-AS1
3 0.925 0.200 X 43949981 missense variant G/A snv 0.700 0
dbSNP: rs869312686
rs869312686
HCFC1
5 0.882 0.120 X 153952053 missense variant G/C;T snv 0.700 0
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1569110700
rs1569110700
TCF20
5 0.925 0.080 22 42179633 missense variant G/A snv 0.700 0
dbSNP: rs869312678
rs869312678
TCF20
3 0.925 0.160 22 42209920 frameshift variant CA/- delins 0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
10 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
6 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
5 0.882 0.160 18 33739086 stop gained C/A snv 0.700 0
dbSNP: rs1555649483
rs1555649483
BPTF
12 0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 0.700 1.000 1 2017 2017
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
dbSNP: rs529855742
rs529855742
SGSH
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs869312713
rs869312713
ANKRD11
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs1567368243
rs1567368243
SIN3A
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs879255530
rs879255530
FOXG1
2 0.925 0.160 14 28767832 missense variant A/T snv 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1057519565
rs1057519565
DEAF1
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017