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: rs61754648
rs61754648
HDAC4
1 2 239090026 missense variant C/T snv 1.4E-03 1.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs7180942
rs7180942
NTRK3
1 15 88131345 intron variant T/C snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs12475512
rs12475512 		2 2 231433365 downstream gene variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs13077017
rs13077017
FLNB
2 3 58120049 intron variant C/T snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs1356639869
rs1356639869
NPY ; LOC107986777
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs138206701
rs138206701
RASGRF2
2 5 81110747 intron variant A/G snv 1.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs4869317
rs4869317
LNPEP
2 1.000 0.040 5 96956300 intron variant T/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs7322916
rs7322916
ATP8A2
2 13 25433839 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs74566133
rs74566133 		2 8 133766099 regulatory region variant C/T snv 2.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs10858583
rs10858583
LOC107984478
3 1.000 0.040 12 87334666 intergenic variant C/T snv 0.79 0.700 1.000 1 2016 2016
dbSNP: rs12149074
rs12149074
LOC105371357
3 1.000 0.040 16 80071969 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs13086738
rs13086738
SOX2-OT
3 1.000 0.040 3 181080939 intron variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs17536211
rs17536211
GABRG1
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1805576
rs1805576
FXR1
3 1.000 0.040 3 180949777 intron variant C/G;T snv 0.24 0.710 1.000 1 2016 2016
dbSNP: rs4148087
rs4148087
ABCG1
3 1.000 0.040 21 42202157 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4854912
rs4854912
SOX2-OT
3 1.000 0.040 3 181063312 intron variant C/T snv 0.15 0.710 1.000 1 2016 2016
dbSNP: rs554073050
rs554073050
CCK
3 0.925 0.040 3 42263460 synonymous variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1473473
rs1473473
TPH2
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.020 1.000 2 2011 2013
dbSNP: rs495225
rs495225
GHSR
4 0.882 0.040 3 172448243 synonymous variant G/A;C;T snv 0.66 0.010 1.000 1 2006 2006
dbSNP: rs375382379
rs375382379
NR3C1
5 0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs550659379
rs550659379
NR3C1
5 0.882 0.160 5 143399780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs752834812
rs752834812
NR3C1
5 0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs772651364
rs772651364
NR3C1
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs13438494
rs13438494
PCLO
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs6189
rs6189
NR3C1
6 0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2010 2010