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: 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: 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: 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: 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: 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: 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: rs199646937
rs199646937
PAX5
1 1.000 0.080 9 36882102 missense variant C/T snv 1.2E-04 1.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs2236599
rs2236599
KLF4
3 0.882 0.080 9 107487224 non coding transcript exon variant C/T snv 0.18 0.15 0.010 1.000 1 2019 2019
dbSNP: rs2445284
rs2445284 		1 1.000 0.080 11 5008473 downstream gene variant C/T snv 0.57 0.700 1.000 1 2013 2013
dbSNP: rs28384513
rs28384513
HBS1L
1 1.000 0.080 6 135055071 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3024719
rs3024719
PROZ
2 0.925 0.080 13 113159911 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
PROZ
3 0.925 0.080 13 113164394 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024735
rs3024735
PROZ ; PCID2
2 0.925 0.080 13 113165199 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs3115229
rs3115229 		1 1.000 0.080 4 122088578 upstream gene variant T/C snv 9.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs3191333
rs3191333
KLF10
3 0.882 0.080 8 102649991 3 prime UTR variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs33949486
rs33949486
HBB
1 1.000 0.080 11 5225632 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs35593994
rs35593994
CD28
1 1.000 0.080 2 203706103 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019