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: rs121913371
rs121913371
BRAF
3 1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1672753
rs1672753
CRBN
4 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs1800832
rs1800832
NTS
1 12 85874401 5 prime UTR variant A/G snv 8.2E-02 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2011 2011
dbSNP: rs397518483
rs397518483
RARB
9 0.851 0.120 3 25596428 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4263839
rs4263839
TNFSF15
7 0.807 0.160 9 114804160 intron variant A/G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs6090453
rs6090453
NTSR1
2 1.000 0.040 20 62724010 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6768972
rs6768972
CRBN
2 1.000 0.160 3 3180101 upstream gene variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554944271
rs1554944271
DEAF1
14 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411
BPTF
10 0.790 0.360 17 67894102 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519521
rs1057519521
EBF3
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0