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: 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: 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: 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: 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: 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: 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
dbSNP: rs35685045
rs35685045
ANTXR1
1 1.000 0.080 2 69098684 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3864785
rs3864785 		1 1.000 0.080 9 7603506 intergenic variant G/C snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs4025935
rs4025935
GSTM1 ; GSTM2
1 1.000 0.080 1 109686818 intron variant GT/- delins 0.010 1.000 1 2017 2017
dbSNP: rs4234795
rs4234795
SORCS2
1 1.000 0.080 4 7209075 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs543023132
rs543023132 		1 1.000 0.080 6 155652652 downstream gene variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT delins 0.12 0.700 1.000 1 2017 2017
dbSNP: rs553767245
rs553767245
EDN1
1 1.000 0.080 6 12292355 missense variant G/A snv 8.0E-06 3.5E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs60684937
rs60684937
MAP2K6
1 1.000 0.080 17 69422989 intron variant T/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs7216169
rs7216169
RABEP1
1 1.000 0.080 17 5316216 intron variant C/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs774366679
rs774366679
PAX5
1 1.000 0.080 9 36846883 missense variant C/T snv 2.0E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs7948471
rs7948471
HBE1 ; HBG2 ; OR51B5 ; OR51I2
1 1.000 0.080 11 5450516 intron variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs9324918
rs9324918
NR3C1
1 1.000 0.080 5 143387595 intron variant T/C snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs9714060
rs9714060
MUC4
1 1.000 0.080 3 195760605 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs111645889
rs111645889
HBB
1 1.000 0.080 11 5225653 missense variant G/A;T snv 2.0E-05 0.700 0
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: rs10195871
rs10195871
BCL11A
2 1.000 0.080 2 60493454 intron variant A/G;T snv 0.700 1.000 1 2011 2011