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: rs17074565
rs17074565 		2 0.925 0.080 13 81668577 intergenic variant C/G snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs2531154
rs2531154
PROM1
1 1.000 0.040 4 16016701 intron variant C/T snv 0.89 0.800 1.000 1 2013 2013
dbSNP: rs3114018
rs3114018
ABCG2
4 0.882 0.160 4 88143429 intron variant A/C snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs3896439
rs3896439
LOC107985376
1 1.000 0.040 1 4608610 intergenic variant G/A snv 9.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs399593
rs399593
LYZL2
1 1.000 0.040 10 30623101 intron variant G/T snv 0.86 0.800 1.000 1 2013 2013
dbSNP: rs9308447
rs9308447 		1 1.000 0.040 1 9372331 downstream gene variant C/T snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs931608
rs931608
ZNF98
2 1.000 0.040 19 22431320 intron variant A/C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.030 1.000 3 2014 2018
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.020 < 0.001 2 2014 2018
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.020 1.000 2 2014 2016
dbSNP: rs3796704
rs3796704
ENAM
3 0.882 0.120 4 70643714 missense variant G/A snv 7.0E-02 0.13 0.020 1.000 2 2014 2019
dbSNP: rs7671281
rs7671281
ENAM
2 0.925 0.080 4 70643369 missense variant T/C snv 8.0E-02 0.17 0.020 1.000 2 2014 2019
dbSNP: rs2232387
rs2232387
KRT75
3 1.000 0.040 12 52433824 missense variant C/T snv 0.13 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2232398
rs2232398
KRT75
3 0.925 0.120 12 52430567 missense variant C/T snv 7.4E-03 6.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs768689932
rs768689932
LTF
1 1.000 0.040 3 46456334 missense variant T/A;C snv 8.0E-06; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs2278163
rs2278163
DLX3
2 0.925 0.080 17 49995062 5 prime UTR variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs17032907
rs17032907
CA6
2 0.925 0.040 1 8950346 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs2274328
rs2274328
CA6
2 0.925 0.040 1 8949385 missense variant A/C snv 0.49 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs2337359
rs2337359
CGN
1 1.000 0.040 1 151523320 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs307355
rs307355
TAS1R3
2 0.925 0.080 1 1329774 upstream gene variant T/C snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs35874116
rs35874116
TAS1R2
3 1.000 0.040 1 18854899 missense variant T/C snv 0.29 0.31 0.010 1.000 1 2015 2015
dbSNP: rs6441989
rs6441989 		3 0.882 0.120 3 46433408 downstream gene variant A/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs6680186
rs6680186 		1 1.000 0.040 1 8979645 non coding transcript exon variant G/A;C;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs9701796
rs9701796
TAS1R2
1 1.000 0.040 1 18859635 missense variant G/C snv 0.78 0.79 0.010 1.000 1 2015 2015
dbSNP: rs12640848
rs12640848
ENAM
2 0.925 0.080 4 70640695 intron variant A/G snv 0.47 0.030 0.667 3 2016 2019