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: 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
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
dbSNP: rs363717
rs363717
ABCA1
1 1.000 0.040 9 104782419 3 prime UTR variant C/T snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs368002262
rs368002262
GPI
1 1.000 0.040 19 34377778 missense variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs373533
rs373533
ADGRE1 ; LOC105372256
2 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 0.010 1.000 1 2014 2014
dbSNP: rs377001714
rs377001714
PGK1
2 1.000 0.040 X 78118074 missense variant C/T snv 1.1E-05 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs3775296
rs3775296
TLR3
6 0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18 0.010 1.000 1 2014 2014
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs4150558
rs4150558
GTF2H1
3 0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs41518645
rs41518645
CYTB ; ND6
3 0.925 0.200 MT 15257 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs461645
rs461645
ADGRE1 ; LOC105372256
1 1.000 0.040 19 6919742 missense variant A/G;T snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs4645948
rs4645948
MYC ; CASC11
3 0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2010 2010