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: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.020 1.000 2 2013 2014
dbSNP: rs1535255
rs1535255
CNR1
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2023239
rs2023239
CNR1
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2015 2015
dbSNP: rs6465084
rs6465084
GRM3 ; LOC105375382
5 0.851 0.040 7 86774159 intron variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs61749465
rs61749465
MCPH1
5 0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs1800955
rs1800955
DRD4
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs10994359
rs10994359
ANK3
7 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs165940
rs165940
PDE4D ; LOC107986348
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs17512836
rs17512836
TCF4
3 0.925 0.040 18 55527730 intron variant T/C snv 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs9960767
rs9960767
TCF4
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs2958182
rs2958182
TCF4 ; TCF4-AS1
5 0.882 0.040 18 55481790 intron variant A/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs12966547
rs12966547
LOC105372125
7 0.827 0.040 18 55084786 intergenic variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs4309482
rs4309482
LOC105372125
3 0.925 0.040 18 55083238 intergenic variant A/G snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs2239547
rs2239547
ITIH4
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs2251219
rs2251219
PBRM1 ; SMIM4
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.010 1.000 1 2013 2013
dbSNP: rs3794899
rs3794899
MAPK4
2 1.000 0.040 18 50719733 intron variant C/T snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs3752088
rs3752088
MAPK4
2 1.000 0.040 18 50714891 intron variant C/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs3892158
rs3892158
MAPK4
2 1.000 0.040 18 50674143 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1893490
rs1893490
MAPK4
2 1.000 0.040 18 50669431 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.060 1.000 6 2007 2017