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: 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: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs1050828
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs1050829
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs1555545033
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
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
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
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: rs3775296
rs3775296
TLR3
0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs461645
rs461645
ADGRE1 ; LOC105372256
1.000 0.040 19 6919742 missense variant A/G;T snv 0.77
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs542998
rs542998
RTN3
1.000 0.040 11 63719914 missense variant T/A;C snv 0.81
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
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: 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: 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: rs12762549
rs12762549 		1.000 0.040 10 99861014 intergenic variant C/G;T snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs13194491
rs13194491 		1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
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: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
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: rs1143634
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2016 2016
dbSNP: rs3024505
rs3024505 		0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2016 2016
dbSNP: rs5744256
rs5744256
IL18
0.827 0.120 11 112152125 intron variant A/G snv 0.16
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2016 2016
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: 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