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: rs1427407
rs1427407
BCL11A
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.710 1.000 3 2011 2019
dbSNP: rs766432
rs766432
BCL11A
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.700 1.000 3 2011 2014
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.710 1.000 2 2011 2016
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.710 1.000 2 2011 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2006 2013
dbSNP: rs10172646
rs10172646
BCL11A
2 1.000 0.080 2 60493622 intron variant G/A snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10189857
rs10189857
BCL11A
6 1.000 0.080 2 60486100 intron variant A/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs10195871
rs10195871
BCL11A
2 1.000 0.080 2 60493454 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10793902
rs10793902
LOC105376294
1 1.000 0.080 9 130502523 downstream gene variant C/T snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs10877969
rs10877969
AVPR1A
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs10901080
rs10901080
ASS1
1 1.000 0.080 9 130483269 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs11968814
rs11968814 		2 1.000 0.080 6 71067268 intergenic variant G/A snv 4.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs1318772
rs1318772
MCC
2 1.000 0.080 5 113387870 intron variant A/G snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs144995469
rs144995469 		1 1.000 0.080 14 56732364 upstream gene variant C/T snv 8.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs146893001
rs146893001
PTPN3
1 1.000 0.080 9 109419337 intron variant T/C snv 3.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs1669539
rs1669539 		2 1.000 0.080 2 105998818 intergenic variant T/C snv 7.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1896294
rs1896294
BCL11A
2 1.000 0.080 2 60491939 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1896295
rs1896295
BCL11A
2 1.000 0.080 2 60496951 intron variant T/C snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs1896296
rs1896296
BCL11A
2 1.000 0.080 2 60496952 intron variant G/T snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs1984112
rs1984112
CD36
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2019 2019