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: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs10974620
rs10974620
SLC1A1 ; SPATA6L
1 9 4557296 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11001109
rs11001109
ADK
1 10 74683339 intron variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1443445
rs1443445
NTRK2
1 9 84919243 intron variant G/A snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs2351299
rs2351299
GABRB1
2 1.000 0.040 4 47141348 intron variant G/T snv 0.19 0.010 < 0.001 1 2006 2006
dbSNP: rs2606345
rs2606345
CYP1A1
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2017 2017
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs3780645
rs3780645
NTRK2
1 9 84944879 intron variant C/T snv 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs4869682
rs4869682
SLC1A3
2 1.000 0.080 5 36656616 intron variant T/G snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6295
rs6295
HTR1A
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs9444348
rs9444348
NT5E
2 6 85465856 intron variant G/A snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs104894718
rs104894718
SCN1B
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs118192226
rs118192226
KCNQ2
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 1.000 6 1984 2015
dbSNP: rs587776973
rs587776973
DEPDC5
3 0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06 0.700 1.000 3 2013 2015
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs201257588
rs201257588
TBC1D24
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs104894483
rs104894483
CLN6
3 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1057519468
rs1057519468
HEXA
6 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014