Source: BEFREE

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: rs1127354
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.900 0.900 19 2010 2020
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: 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: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0002871
Disease: Anemia
Anemia 		0.040 1.000 4 2006 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.030 1.000 3 1997 2018
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: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0002871
Disease: Anemia
Anemia 		0.030 1.000 3 2007 2010
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: rs104894815
rs104894815
GATA1
0.776 0.120 X 48792337 missense variant G/A snv
CUI: C0002871
Disease: Anemia
Anemia 		0.020 1.000 2 2000 2012
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: 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: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0002871
Disease: Anemia
Anemia 		0.020 1.000 2 2012 2013
dbSNP: rs855791
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.020 1.000 2 2013 2015
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: 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: rs104894808
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2002 2002
dbSNP: rs104894816
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2002 2002
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: 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: 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: 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: 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: 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: 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