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: rs1555902
rs1555902 		1 1.000 0.160 13 108204435 downstream gene variant C/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs1672753
rs1672753
CRBN
4 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
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 2006 2006
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 2006 2006
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2007 2007
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2018 2018
dbSNP: rs193451
rs193451 		1 1.000 0.160 7 108670542 intergenic variant A/G snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs1934951
rs1934951
CYP2C8
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2007 2007
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 2011 2011
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2107356
rs2107356
IL4R
4 0.851 0.240 16 27312083 upstream gene variant C/T snv 0.35 0.010 1.000 1 2007 2007
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs2228055
rs2228055
IL10RA
4 0.851 0.280 11 117994131 missense variant A/C;G snv 8.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2231137
rs2231137
ABCG2
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2456449
rs2456449
PCAT1 ; CASC19
5 0.827 0.280 8 127180736 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012