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: 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: 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: 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: 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: rs1060499688
rs1060499688
GNPTAB
0.882 0.200 12 101753399 missense variant A/G snv
CUI: C0002871
Disease: Anemia
Anemia 		0.700 0
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: 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: 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: 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: 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: 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: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.010 < 0.001 1 2006 2006
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: 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: 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: 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: 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: 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: rs267607201
rs267607201
KLF1
0.807 0.120 19 12885001 missense variant C/T snv
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: rs1470452230
rs1470452230
PAEP
0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2017 2017
dbSNP: rs41518645
rs41518645
CYTB ; ND6
0.925 0.200 MT 15257 missense variant G/A snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2019 2019
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: 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