Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6051702
rs6051702
C20orf194
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.040 1.000 4 2013 2020
dbSNP: rs760370
rs760370
SLC29A1
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.030 0.333 3 2015 2017
dbSNP: rs104894815
rs104894815
GATA1
9 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2012 2020
dbSNP: rs10132552
rs10132552
MEG3
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs104894808
rs104894808
GATA1
4 0.851 0.120 X 48792376 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894816
rs104894816
GATA1
6 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs10761745
rs10761745
JMJD1C
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.010 1.000 1 2017 2017
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12762549
rs12762549 		1 1.000 0.040 10 99861014 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs13194491
rs13194491 		5 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1375515
rs1375515
CACNA2D3
1 1.000 0.040 3 54442613 intron variant C/T snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1470452230
rs1470452230
PAEP
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1531289
rs1531289
KDR
2 0.925 0.080 4 55089065 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1555545033
rs1555545033
THRA
7 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1868505
rs1868505
CACNA2D3
1 1.000 0.040 3 54387228 intron variant T/C snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs1934951
rs1934951
CYP2C8
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2071346
rs2071346
MYC ; CASC11
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs2245214
rs2245214
ATG5
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs267607201
rs267607201
KLF1
7 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs3024505
rs3024505 		10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs33950542
rs33950542
HBB
1 1.000 0.040 11 5226665 missense variant A/C;G snv 0.010 1.000 1 2012 2012