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: rs12521388
rs12521388 		1 1.000 0.040 5 25912004 downstream gene variant G/A snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs13000344
rs13000344 		2 0.925 0.040 2 63062599 downstream gene variant T/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1346536
rs1346536 		1 1.000 0.040 5 25915543 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs6537835
rs6537835 		1 1.000 0.040 1 114566293 downstream gene variant G/A snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs7274133
rs7274133 		1 1.000 0.040 20 17213024 downstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs10858047
rs10858047 		1 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs11899372
rs11899372 		1 1.000 0.040 2 127016304 upstream gene variant G/T snv 6.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4519482
rs4519482 		1 1.000 0.040 2 172098631 upstream gene variant A/T snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs4570625
rs4570625
TPH2
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 < 0.001 1 2007 2007
dbSNP: rs6044680
rs6044680 		1 1.000 0.040 20 17205717 upstream gene variant T/C snv 0.66 0.010 1.000 1 2020 2020
dbSNP: rs6311
rs6311
HTR2A
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 < 0.001 1 2016 2016
dbSNP: rs7294536
rs7294536
AVPR1A
2 0.925 0.040 12 63154312 upstream gene variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs789859
rs789859
FAM43A
1 1.000 0.040 3 194685159 upstream gene variant G/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs926938
rs926938
AMPD1
1 1.000 0.040 1 114697195 upstream gene variant A/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs12690517
rs12690517
ITGA4
1 1.000 0.040 2 181509807 splice region variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs7800565
rs7800565 		1 1.000 0.040 7 16740384 TF binding site variant A/G snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs1568507354
rs1568507354
RYR1
6 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs34002892
rs34002892
GNPTAB
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
dbSNP: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019