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: rs13111638
rs13111638
SLC2A9 ; LOC105374476
4 0.882 0.200 4 9995266 intron variant T/C snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs10783124
rs10783124 		1 1.000 0.080 1 99937719 intergenic variant A/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs7583877
rs7583877
AFF3
2 0.925 0.080 2 99844192 intron variant C/T snv 0.61 0.020 1.000 2 2012 2013
dbSNP: rs7562121
rs7562121
AFF3
1 1.000 0.080 2 99767892 intron variant C/G snv 0.66 0.700 1.000 1 2017 2017
dbSNP: rs59834205
rs59834205
SLC2A9
3 0.882 0.200 4 9959396 intron variant -/GA delins 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs161740
rs161740
CHD1
3 0.882 0.200 5 98869326 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2236242
rs2236242
SERPINA12
9 0.776 0.280 14 94493715 intron variant T/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs17709344
rs17709344
LOC107983974
2 0.925 0.080 15 93608310 intron variant G/A snv 4.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs12437854
rs12437854
LOC107983974
2 0.925 0.080 15 93598604 intron variant T/G snv 0.10 0.030 1.000 3 2012 2014
dbSNP: rs594442
rs594442 		1 1.000 0.080 6 93138166 intergenic variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs553908921
rs553908921
CCSER1
1 1.000 0.080 4 91329657 intron variant C/T snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs62416056
rs62416056
GJA10
2 1.000 0.080 6 89918054 intron variant G/C snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484
DPEP1
3 1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs139401390
rs139401390 		5 0.851 0.120 10 88643382 regulatory region variant A/G snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1049255
rs1049255
CYBA
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2016 2016
dbSNP: rs2576178
rs2576178
RNLS ; LIPJ
9 0.790 0.160 10 88583641 5 prime UTR variant A/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs10887800
rs10887800
RNLS ; LOC101929727
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4148155
rs4148155
ABCG2
5 0.882 0.200 4 88133515 intron variant A/G snv 8.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.700 1.000 1 2018 2018
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs2229109
rs2229109
ABCB1
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs147084429
rs147084429
LINC02188
1 1.000 0.080 16 86727784 intron variant C/T snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs80282103
rs80282103
LARP4B
4 1.000 0.080 10 853131 intron variant A/T snv 0.12 0.700 1.000 1 2019 2019