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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
36 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2000 2000
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T 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: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs1556914274
rs1556914274
HUWE1
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1554691658
rs1554691658
PTCH1
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
dbSNP: rs797045140
rs797045140
IQSEC2
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869312865
rs869312865
GRIN1 ; LOC105376328
5 0.827 0.160 9 137156676 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0