Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs662799
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2018 2018
dbSNP: rs10761745
rs10761745
JMJD1C
0.882 0.240 10 63341311 intron variant G/C snv 0.87
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2017 2017
dbSNP: rs1868505
rs1868505
CACNA2D3
1.000 0.040 3 54387228 intron variant T/C snv 0.86
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs363717
rs363717
ABCA1
1.000 0.040 9 104782419 3 prime UTR variant C/T snv 0.85
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs373533
rs373533
ADGRE1 ; LOC105372256
0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs7385804
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0002871
Disease: Anemia
Anemia 		0.010 < 0.001 1 2012 2012
dbSNP: rs6780995
rs6780995
IL17RD
0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2013 2013
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs987710
rs987710
IGLV10-54
1.000 0.040 22 22158022 intron variant G/A snv 0.61
CUI: C0002871
Disease: Anemia
Anemia 		0.700 1.000 1 2011 2011
dbSNP: rs6568431
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2018 2018
dbSNP: rs1375515
rs1375515
CACNA2D3
1.000 0.040 3 54442613 intron variant C/T snv 0.58
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs7072268
rs7072268
HK1
0.925 0.120 10 69340157 intron variant T/C snv 0.54
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2009 2009
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51
CUI: C0002871
Disease: Anemia
Anemia 		0.010 < 0.001 1 2017 2017
dbSNP: rs708567
rs708567
IL17RC
0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2013 2013
dbSNP: rs11854484
rs11854484
SLC28A2 ; LOC101928414
0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2013 2013
dbSNP: rs4833095
rs4833095
TLR1
0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2010 2010
dbSNP: rs2245214
rs2245214
ATG5
0.827 0.240 6 106214866 intron variant C/G snv 0.42
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2018 2018
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0002871
Disease: Anemia
Anemia 		0.020 1.000 2 2012 2020
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0002871
Disease: Anemia
Anemia 		0.030 1.000 3 2009 2018
dbSNP: rs760370
rs760370
SLC29A1
0.925 0.120 6 44233216 intron variant A/G snv 0.36
CUI: C0002871
Disease: Anemia
Anemia 		0.030 0.333 3 2015 2017
dbSNP: rs3811647
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0002871
Disease: Anemia
Anemia 		0.010 < 0.001 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2018 2018
dbSNP: rs10132552
rs10132552
MEG3
1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2017 2017
dbSNP: rs1934951
rs1934951
CYP2C8
0.925 0.160 10 95038791 intron variant C/T snv 0.24
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014