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: 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: rs1135401761
rs1135401761
AHDC1
2 0.925 0.200 1 27548302 stop gained G/A;C snv 0.700 0
dbSNP: rs863225264
rs863225264
MTOR
6 0.827 0.240 1 11130747 missense variant C/T snv 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
3 1.000 0.160 1 210920032 missense variant C/T snv 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
5 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs869025316
rs869025316
UNC80
4 0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05 0.700 0
dbSNP: rs869025317
rs869025317
UNC80
4 0.925 0.160 2 209959707 missense variant G/C snv 0.700 0
dbSNP: rs869025318
rs869025318
UNC80
4 0.925 0.160 2 209820379 frameshift variant A/- delins 0.700 0
dbSNP: rs869025319
rs869025319
UNC80
4 0.925 0.160 2 209967586 stop gained T/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: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs797045036
rs797045036
TRNT1 ; CRBN
2 0.925 0.160 3 3151023 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs869312685
rs869312685
ITPR1
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
dbSNP: rs1554150607
rs1554150607
MEF2C
2 0.925 0.160 5 88823786 start lost C/G snv 0.700 1.000 4 2009 2013
dbSNP: rs1554041295
rs1554041295
ZSWIM6
2 0.925 0.160 5 61541917 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 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: 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: rs200115000
rs200115000
CAMK2B
2 1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs796052056
rs796052056
TMEM70
3 0.882 0.240 8 73976397 frameshift variant -/GT delins 0.700 1.000 3 2008 2014