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: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2016 2016
dbSNP: rs10818488
rs10818488
C5-OT1
0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 < 0.001 1 2015 2015
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 < 0.001 1 2009 2009
dbSNP: rs11465797
rs11465797
IL23R ; C1orf141
1.000 0.040 1 67200769 missense variant C/A snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2009 2009
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2017 2017
dbSNP: rs199422295
rs199422295
TERT
0.882 0.120 5 1279376 missense variant C/T snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2006 2006
dbSNP: rs2069762
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 < 0.001 1 2017 2017
dbSNP: rs2234922
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2016 2016
dbSNP: rs2317130
rs2317130
TGFB1 ; B9D2
1.000 0.040 19 41355769 intron variant C/G;T snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2017 2017
dbSNP: rs510432
rs510432
ATG5
0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2019 2019
dbSNP: rs573775
rs573775
ATG5
0.851 0.320 6 106316991 intron variant G/A snv 0.34
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2019 2019
dbSNP: rs803360
rs803360
ATG5
1.000 0.040 6 106318254 intron variant G/A;C snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		0.010 1.000 1 2019 2019