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: rs10480300
rs10480300
PRKAG2
6 0.925 0.120 7 151708919 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs11072566
rs11072566
NRG4
5 0.925 0.120 15 76001630 intron variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs130624
rs130624 		6 22 37042611 regulatory region variant G/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs1532085
rs1532085
ALDH1A2
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs228129
rs228129
LOC112268295
6 22 37032558 upstream gene variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs13335629
rs13335629
FAM234A
4 16 260381 intron variant G/A;C snv 1.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs7203560
rs7203560
NPRL3
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs762516
rs762516
G6PD
4 X 154536448 intron variant C/T snv 4.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs35152987
rs35152987
HBD
4 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.700 1.000 1 2015 2015
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs5030868
rs5030868
G6PD
9 0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 0.700 1.000 1 2015 2015
dbSNP: rs570013781
rs570013781
NPRL3
2 16 99541 intron variant G/A snv 2.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs67385638
rs67385638
HBE1 ; HBG2
2 11 5269140 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7776054
rs7776054
HBS1L
13 6 135097778 intron variant A/G snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs833805
rs833805
LOC101929705
3 6 44062274 non coding transcript exon variant A/G snv 0.92 0.700 1.000 2 2016 2018
dbSNP: rs1010269
rs1010269
BCAS3
1 17 61371584 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs10494964
rs10494964
LOC105372912
2 1 213793544 intron variant T/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs10899133
rs10899133
UVRAG
1 11 75820650 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11072567
rs11072567
NRG4
5 15 76006403 intron variant A/G snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs11122272
rs11122272
EXOC8
1 1 231335026 3 prime UTR variant A/G snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs111476047
rs111476047 		1 19 49548304 downstream gene variant -/GGTT delins 0.37 0.700 1.000 1 2016 2016
dbSNP: rs11377084
rs11377084
LINC01169
1 15 66651883 intron variant -/A ins 0.67 0.700 1.000 1 2016 2016
dbSNP: rs114948639
rs114948639
PRKCE
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016