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: rs1064607
rs1064607
LPP
5 0.827 0.200 3 188877884 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs11084377
rs11084377
FCAR
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs11102930
rs11102930
NGF ; NGF-AS1
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs11150619
rs11150619
ITGAX
2 0.925 0.160 16 31365528 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs11264793
rs11264793
FCRL3
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs12022418
rs12022418
LOC105371664
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs12615793
rs12615793
ACYP2
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs13124532
rs13124532
PDE5A ; LOC645513
2 1.000 0.120 4 119495290 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1362970
rs1362970
NTN4 ; PGAM1P5
1 1.000 0.120 12 95658750 3 prime UTR variant C/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1369270
rs1369270 		1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs140433921
rs140433921
SLC3A1
1 1.000 0.120 2 44286102 start lost T/C snv 2.0E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1520220
rs1520220
IGF1 ; LINC02456
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2018 2018
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2012 2012
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2017 2017