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: rs5006884
rs5006884
HBE1 ; HBG2 ; OR51B5 ; OR51B6
1 11 5352021 missense variant C/T snv 0.24 0.27 0.800 1.000 3 2010 2012
dbSNP: rs6732518
rs6732518
BCL11A
1 2 60481462 intron variant C/T snv 0.64 0.700 1.000 3 2007 2012
dbSNP: rs10837540
rs10837540 		1 11 5193183 intergenic variant T/A snv 0.53 0.700 1.000 2 2008 2011
dbSNP: rs1391619
rs1391619
HBE1 ; HBG2 ; OR51B5
1 11 5434699 intron variant G/A;C snv 0.700 1.000 2 2008 2011
dbSNP: rs6709302
rs6709302
BCL11A
1 2 60500494 intron variant G/A snv 0.30 0.700 1.000 2 2011 2012
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: 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
dbSNP: rs10836955
rs10836955
MMP26 ; OR51G1
1 11 4924401 intron variant G/A snv 0.15 0.700 1.000 1 2008 2008
dbSNP: rs10837104
rs10837104
OR51L1
1 11 4997987 intron variant C/G snv 0.30 0.700 1.000 1 2008 2008
dbSNP: rs10837107
rs10837107
OR51L1
1 11 4998127 intron variant T/C snv 0.29 0.700 1.000 1 2008 2008
dbSNP: rs10837108
rs10837108
OR51L1
1 11 4998887 5 prime UTR variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs10837513
rs10837513
OR52Z1
1 11 5179410 upstream gene variant G/T snv 0.70 0.700 1.000 1 2008 2008
dbSNP: rs10837593
rs10837593 		1 11 5210667 downstream gene variant C/T snv 0.79 0.700 1.000 1 2008 2008
dbSNP: rs10837767
rs10837767
HBE1 ; HBG2
1 11 5296323 intron variant T/G snv 0.51 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: rs10838807
rs10838807
OR52Q1P ; TRIM5 ; LOC112268071
1 11 5904419 non coding transcript exon variant G/T snv 9.2E-02 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: rs11035045
rs11035045 		1 11 4994711 upstream gene variant C/T snv 0.33 0.700 1.000 1 2008 2008
dbSNP: rs11035046
rs11035046
OR51L1
1 11 4995039 5 prime UTR variant G/A snv 0.33 0.700 1.000 1 2008 2008