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: rs768843272
rs768843272
TFR2
0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2006 2006
dbSNP: rs28940298
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2011 2011
dbSNP: rs76992529
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0002871
Disease: Anemia
Anemia 		0.700 0
dbSNP: rs4150558
rs4150558
GTF2H1
0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2017 2017
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2004 2004
dbSNP: rs4645948
rs4645948
MYC ; CASC11
0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2019 2019
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: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.020 0.500 2 1999 2007
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: rs2071346
rs2071346
MYC ; CASC11
0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2013 2013
dbSNP: rs7270101
rs7270101
ITPA
0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.070 0.857 7 2011 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002871
Disease: Anemia
Anemia 		0.010 < 0.001 1 2005 2005
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: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2012 2012
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: 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: 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: rs6051702
rs6051702
C20orf194
0.882 0.120 20 3271278 intron variant A/C snv 0.19
CUI: C0002871
Disease: Anemia
Anemia 		0.040 1.000 4 2013 2020
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: 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: 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: 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: 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: 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