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: rs869320632
rs869320632
LMAN2L
4 0.925 0.040 2 96739883 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121918368
rs121918368
TRNT1 ; CRBN
3 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 0.030 1.000 3 2008 2015
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs1287153074
rs1287153074
FOXP1
2 1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1294642759
rs1294642759
FOXP1
2 1.000 0.080 3 70959372 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1301785134
rs1301785134
ATR
3 0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1378981995
rs1378981995
ARL13B
3 0.925 0.200 3 94003751 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs150263896
rs150263896
ZBTB20
1 3 114339010 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs745986648
rs745986648
SGO1 ; SGO1-AS1
2 1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs878854402
rs878854402
TBL1XR1
6 0.851 0.280 3 177033050 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs879255635
rs879255635
ZBTB20
1 3 114339384 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs74900327
rs74900327
SMN2
2 1.000 0.120 5 70049747 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1554032789
rs1554032789
NIPBL
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs370667926
rs370667926
MED23
2 1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs761249181
rs761249181
COL9A1
1 6 70252139 missense variant C/T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs768746587
rs768746587
POU5F1 ; TCF19
3 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008