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: rs35699606
rs35699606
HBB
3 0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05 0.700 0
dbSNP: rs63750532
rs63750532
HBB
3 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.710 1.000 2 2011 2016
dbSNP: rs6545816
rs6545816
BCL11A
2 1.000 0.080 2 60487726 intron variant A/C;G snv 0.50 0.700 1.000 1 2011 2011
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: 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: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0
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: rs33951465
rs33951465
HBB
3 0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 12 1998 2019
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: rs118203945
rs118203945
MTOR ; UBIAD1
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
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: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1984112
rs1984112
CD36
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2963155
rs2963155
NR3C1
3 0.882 0.160 5 143376439 intron variant A/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2018 2018
dbSNP: rs6738440
rs6738440
BCL11A
2 1.000 0.080 2 60495106 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2019 2019
dbSNP: rs7584113
rs7584113
BCL11A
2 1.000 0.080 2 60494176 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs768272475
rs768272475
SOAT1
2 0.925 0.240 1 179345018 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs35256489
rs35256489
HBB
6 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
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: rs33978907
rs33978907
HBB
4 0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 0.700 0