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: rs213273
rs213273
HDAC9
5 1.000 7 18464885 intron variant G/A snv 0.96 0.700 1.000 1 2014 2014
dbSNP: rs801350
rs801350 		5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
dbSNP: rs1858826
rs1858826
GNGT1
3 1.000 0.080 7 93719703 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
dbSNP: rs301927
rs301927
EPHA6
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs11076161
rs11076161
MT1A
2 1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1330950
rs1330950
LINC00551
5 1.000 13 106686453 intron variant C/A snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs7963521
rs7963521 		1 12 73435176 intergenic variant C/T snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs11073752
rs11073752
NTRK3
2 1.000 0.080 15 87879820 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs1045644
rs1045644
COCH ; LOC100506071
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.040 0.500 4 2006 2013
dbSNP: rs1159057
rs1159057 		1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.720 1.000 2 2015 2016
dbSNP: rs10555080
rs10555080
LINC02841
2 1.000 0.080 19 31552265 intron variant GACT/-;GACTGACT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs502716
rs502716 		5 1.000 20 945754 intergenic variant G/A snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs10636
rs10636
MT2A
7 0.851 0.160 16 56609431 3 prime UTR variant G/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs10495970
rs10495970 		5 1.000 2 49264671 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs9636436
rs9636436 		5 1.000 2 49270867 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs17032980
rs17032980 		3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs1934951
rs1934951
CYP2C8
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs12786200
rs12786200
FAT3
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs11017056
rs11017056
C10orf143
3 1.000 0.080 10 130032376 intron variant A/C;T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs4737264
rs4737264
XKR4
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013