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: rs10195871
rs10195871
BCL11A
2 1.000 0.080 2 60493454 intron variant A/G;T snv 0.800 1.000 3 2007 2012
dbSNP: rs1427407
rs1427407
BCL11A
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.800 1.000 3 2007 2014
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.800 1.000 3 2007 2015
dbSNP: rs6706648
rs6706648
BCL11A
2 1.000 0.080 2 60494905 intron variant C/G;T snv 0.800 1.000 3 2007 2012
dbSNP: rs1391619
rs1391619
HBE1 ; HBG2 ; OR51B5
1 11 5434699 intron variant G/A;C snv 0.700 1.000 2 2008 2011
dbSNP: rs1553934
rs1553934
MIR4432HG
3 2 60382761 intron variant G/C;T snv 0.700 1.000 2 2007 2008
dbSNP: rs1896294
rs1896294
BCL11A
2 1.000 0.080 2 60491939 intron variant C/G;T snv 0.800 1.000 2 2007 2011
dbSNP: rs243027
rs243027
MIR4432HG
3 2 60379872 intron variant T/A;G snv 0.700 1.000 2 2007 2011
dbSNP: rs4910742
rs4910742
HBE1 ; HBG2
3 11 5285279 intron variant G/A;T snv 0.800 1.000 2 2008 2011
dbSNP: rs7482144
rs7482144
HBG2
4 0.882 0.280 11 5254939 3 prime UTR variant G/A snv 0.700 1.000 2 2007 2011
dbSNP: rs7937649
rs7937649
OR51V1
1 11 5201149 upstream gene variant G/A;T snv 0.700 1.000 2 2008 2011
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.800 1.000 2 2012 2014
dbSNP: rs10837108
rs10837108
OR51L1
1 11 4998887 5 prime UTR variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs10838245
rs10838245
UBQLNL
1 11 5514299 intron variant G/A;C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs11030841
rs11030841
STIM1
1 11 4077783 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs11692396
rs11692396
BCL11A
1 2 60483603 intron variant G/A;C snv 0.700 1.000 1 2007 2007
dbSNP: rs1186868
rs1186868
LOC107985767
1 2 61764103 intergenic variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs12294758
rs12294758 		1 11 5093962 downstream gene variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs12474693
rs12474693 		2 2 60441297 upstream gene variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1694676
rs1694676 		1 11 5552601 intron variant T/A;G snv 0.700 1.000 1 2008 2008
dbSNP: rs1823636
rs1823636 		1 11 4254774 intergenic variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1993225
rs1993225
TRIM5 ; OR52N2
1 11 5819838 intron variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs201286260
rs201286260 		1 11 5205088 splice donor variant -/A ins 0.700 1.000 1 2008 2008
dbSNP: rs2105819
rs2105819
HBD
1 11 5238497 intron variant G/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs243067
rs243067 		3 2 60394508 intron variant G/C;T snv 0.700 1.000 1 2007 2007