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: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 < 0.001 1 2009 2009
dbSNP: rs12434439
rs12434439 		0.925 0.160 14 102068203 upstream gene variant G/C;T snv
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2018 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2003 2003
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2003 2003
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2020 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2011 2011
dbSNP: rs4786370
rs4786370
IL32
0.882 0.280 16 3063897 upstream gene variant T/C snv 0.42
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2018 2018
dbSNP: rs63750306
rs63750306
PSEN1
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 1998 1998
dbSNP: rs6920220
rs6920220 		0.742 0.440 6 137685367 intron variant G/A snv 0.16
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2013 2013
dbSNP: rs80356682
rs80356682
LAMB3
0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2002 2002