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: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1065080
rs1065080
SMAD3
1 1.000 0.040 15 67164997 missense variant A/G;T snv 0.87 0.010 1.000 1 2019 2019
dbSNP: rs10817595
rs10817595
AKNA
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs11177
rs11177
GNL3 ; PBRM1 ; SNORD19 ; SNORD136
4 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.010 1.000 1 2018 2018
dbSNP: rs112129861
rs112129861
RNF111
1 1.000 0.040 15 59047450 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2016 2016
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2015 2015
dbSNP: rs11564299
rs11564299 		2 0.925 0.040 18 28180064 upstream gene variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs12459350
rs12459350
DOT1L
3 0.925 0.200 19 2176587 intron variant A/G snv 0.46 0.010 < 0.001 1 2014 2014
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1278279
rs1278279
ADAM12
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs12982744
rs12982744
DOT1L
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs13301537
rs13301537
ASPN ; CENPP
2 0.925 0.040 9 92466765 intron variant A/G snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1419894030
rs1419894030
ESR1
1 1.000 0.040 6 151944332 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1459997671
rs1459997671
MMP9
3 0.882 0.120 20 46010963 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1529505
rs1529505
F2RL1
1 1.000 0.040 5 76819138 5 prime UTR variant C/G;T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs16868943
rs16868943
COL11A2
3 1.000 0.040 6 33179950 intron variant G/A snv 2.9E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs17039192
rs17039192
EPAS1
4 0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs17786744
rs17786744
LOC107986931
4 0.882 0.120 8 23919493 intergenic variant A/G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 < 0.001 1 2017 2017