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: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.020 1.000 2 2006 2012
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
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs875989800
rs875989800
SMARCB1
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2303380
rs2303380
TTC12
2 1.000 0.040 11 113329987 splice region variant G/A snv 0.61 0.64 0.010 1.000 1 2017 2017
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs587776625
rs587776625
ADGRG1
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs606231193
rs606231193
PQBP1
6 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
dbSNP: rs27072
rs27072
SLC6A3
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs3746544
rs3746544
SNAP25 ; SNAP25-AS1
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2017 2017
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: rs6278
rs6278
DRD2
2 1.000 0.080 11 113410002 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1170695
rs1170695
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
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: rs5569
rs5569
SLC6A2
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2004 2004
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: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2006 2006
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2006 2018
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