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: rs11854484
rs11854484
SLC28A2 ; LOC101928414
2 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs1196547982
rs1196547982
TLR2
2 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
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: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918367
rs121918367
SLC11A2
5 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 0.010 1.000 1 2011 2011
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: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2005 2005
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
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: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 < 0.001 1 2017 2017
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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 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: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2011 2011