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: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.700 1.000 3 2008 2012
dbSNP: rs6732518
rs6732518
BCL11A
1 2 60481462 intron variant C/T snv 0.64 0.700 1.000 3 2007 2012
dbSNP: rs10445937
rs10445937 		3 2 60410521 intron variant G/A snv 0.39 0.700 1.000 2 2007 2008
dbSNP: rs10837540
rs10837540 		1 11 5193183 intergenic variant T/A snv 0.53 0.700 1.000 2 2008 2011
dbSNP: rs11884411
rs11884411 		2 2 60442359 upstream gene variant T/C snv 0.51 0.700 1.000 2 2007 2008
dbSNP: rs13027161
rs13027161
MIR4432HG
4 2 60380593 intron variant T/C snv 0.29 0.700 1.000 2 2007 2008
dbSNP: rs1320963
rs1320963 		5 6 135122074 intergenic variant A/G snv 0.35 0.700 1.000 2 2007 2011
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: rs2137281
rs2137281
MIR4432HG
3 2 60384873 non coding transcript exon variant C/T snv 0.29 0.700 1.000 2 2007 2008
dbSNP: rs243027
rs243027
MIR4432HG
3 2 60379872 intron variant T/A;G snv 0.700 1.000 2 2007 2011
dbSNP: rs243078
rs243078
MIR4432 ; MIR4432HG
2 2 60388168 intron variant A/G snv 0.42 0.700 1.000 2 2007 2008
dbSNP: rs243079
rs243079
MIR4432 ; MIR4432HG
2 2 60387893 intron variant A/C snv 0.42 0.700 1.000 2 2007 2008
dbSNP: rs6709302
rs6709302
BCL11A
1 2 60500494 intron variant G/A snv 0.30 0.700 1.000 2 2011 2012
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: rs840716
rs840716
MMP26
1 11 4932232 intron variant G/T snv 8.3E-02 0.700 1.000 2 2008 2011
dbSNP: rs888082
rs888082
LOC102724142
2 2 60402474 intron variant G/A snv 0.48 0.700 1.000 2 2007 2008
dbSNP: rs925483
rs925483
MIR4432HG
3 2 60384150 intron variant G/A snv 0.29 0.700 1.000 2 2007 2008
dbSNP: rs968856
rs968856
HBD
1 11 5239346 intron variant T/C snv 0.46 0.700 1.000 2 2008 2011
dbSNP: rs1003586
rs1003586
HBB
1 11 5228140 intron variant C/T snv 0.13 0.700 1.000 1 2008 2008
dbSNP: rs10184550
rs10184550
BCL11A
1 2 60502159 intron variant G/A snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs1044392
rs1044392
UBQLNL
1 11 5514441 3 prime UTR variant A/G snv 0.35 0.700 1.000 1 2008 2008
dbSNP: rs10768980
rs10768980
HBE1 ; HBG2 ; OR51B5
1 11 5470803 intron variant C/G snv 0.55 0.700 1.000 1 2008 2008
dbSNP: rs10835979
rs10835979 		1 11 4374955 upstream gene variant G/A snv 0.88 0.700 1.000 1 2008 2008