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: rs79246196
rs79246196
STAG3
4 0.925 0.080 7 100185286 intron variant C/T snv 1.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs1427074798
rs1427074798
PKD2L1
1 1.000 0.080 10 100297067 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs57083693
rs57083693
UTP20
3 1.000 0.080 12 101348402 intron variant T/C snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs12544026
rs12544026
NCALD
4 0.925 0.080 8 101819970 intron variant G/A snv 0.85 0.700 1.000 1 2017 2017
dbSNP: rs3917328
rs3917328
IL1R1
2 1.000 0.080 2 102178081 3 prime UTR variant C/G;T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs774062108
rs774062108
NFKB1 ; LOC105377347
3 0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs4648143
rs4648143
NFKB1 ; LOC105377347
2 1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs115357105
rs115357105 		4 0.925 0.080 9 104376689 intergenic variant A/G snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs61776290
rs61776290 		3 1.000 0.080 1 10634850 upstream gene variant C/T snv 8.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs17037102
rs17037102
DKK2
6 0.807 0.240 4 106924637 missense variant C/A;T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs7906104
rs7906104
LINC02661
3 1.000 0.080 10 108737343 intron variant C/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1995364
rs1995364 		1 1.000 0.080 5 10903669 intergenic variant A/G snv 0.62 0.700 1.000 1 2013 2013
dbSNP: rs17125651
rs17125651 		3 1.000 0.080 10 109063325 intergenic variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs521674
rs521674
ADRA2A
2 0.925 0.160 10 111075832 upstream gene variant T/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs602618
rs602618 		1 1.000 0.080 10 111083327 downstream gene variant C/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs149212747
rs149212747
LINC02356
2 1.000 0.080 12 111398968 intron variant C/-;CC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs25917
rs25917
CAMK4
1 1.000 0.080 5 111473151 intron variant A/G snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2014 2014
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs886205
rs886205
ALDH2
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.020 1.000 2 2016 2017
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.030 1.000 3 2010 2018
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.900 1.000 11 2005 2019
dbSNP: rs143894582
rs143894582
PTPN11
3 1.000 0.080 12 112469070 intron variant A/-;AA delins 0.010 1.000 1 2018 2018