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: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2008 2008
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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2009 2009
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: 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 20 2010 2020
dbSNP: rs1196547982
rs1196547982
TLR2
0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2010 2010
dbSNP: rs368002262
rs368002262
GPI
1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2010 2010
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: rs775910328
rs775910328
TLR4
0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2010 2010
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: rs121918367
rs121918367
SLC11A2
0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2011 2011
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: 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: 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: 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: rs33950542
rs33950542
HBB
1.000 0.040 11 5226665 missense variant A/C;G snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: 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: 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: rs1531289
rs1531289
KDR
0.925 0.080 4 55089065 intron variant T/A;C snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2013 2013
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