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: rs3836790
rs3836790
SLC6A3
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs6191
rs6191
NR3C1
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1057519475
rs1057519475
FOXC1
2 1.000 0.080 6 1610761 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs206936
rs206936
NUDT3 ; RPS10-NUDT3
8 0.882 0.160 6 34335092 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs33980500
rs33980500
TRAF3IP2 ; TRAF3IP2-AS1
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs372857241
rs372857241
FOXC1
2 1.000 0.080 6 1610586 stop gained C/G;T snv 1.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs539815495
rs539815495
PRKN
1 6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs6296
rs6296
HTR1B ; LOC105377864
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs778899140
rs778899140
PDE10A
5 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs875989839
rs875989839
PDE10A
3 1.000 6 165450242 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2013 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2013 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2110267
rs2110267
DPP6
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs324981
rs324981
NPSR1 ; NPSR1-AS1
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2015 2015
dbSNP: rs1057518644
rs1057518644
HGSNAT
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1060504185
rs1060504185
CDKN2A
1 9 21971116 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2281997
rs2281997
ENHO
5 0.882 0.240 9 34521869 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs914655
rs914655
C9orf92
1 9 16208133 intron variant G/T snv 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12765063
rs12765063
CREM ; CUL2
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1800035
rs1800035
ADRA2A
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2010 2010