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: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10793902
rs10793902
LOC105376294
1 1.000 0.080 9 130502523 downstream gene variant C/T snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs10877969
rs10877969
AVPR1A
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs10901080
rs10901080
ASS1
1 1.000 0.080 9 130483269 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
3 0.882 0.280 1 11273836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913123
rs121913123
FH
4 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1984112
rs1984112
CD36
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs199646937
rs199646937
PAX5
1 1.000 0.080 9 36882102 missense variant C/T snv 1.2E-04 1.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs2236599
rs2236599
KLF4
3 0.882 0.080 9 107487224 non coding transcript exon variant C/T snv 0.18 0.15 0.010 1.000 1 2019 2019
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs28384513
rs28384513
HBS1L
1 1.000 0.080 6 135055071 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2963155
rs2963155
NR3C1
3 0.882 0.160 5 143376439 intron variant A/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs3024719
rs3024719
PROZ
2 0.925 0.080 13 113159911 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024731
rs3024731
PROZ
3 0.925 0.080 13 113164394 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3024735
rs3024735
PROZ ; PCID2
2 0.925 0.080 13 113165199 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs3191333
rs3191333
KLF10
3 0.882 0.080 8 102649991 3 prime UTR variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs33389
rs33389
NR3C1
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs33949486
rs33949486
HBB
1 1.000 0.080 11 5225632 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 1998 1998