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: rs10474606
rs10474606
THBS4
2 0.925 0.080 5 80057163 intron variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1062935
rs1062935
RPTOR ; LOC400627
2 0.925 0.080 17 80966057 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs10787498
rs10787498
CASP7
2 0.925 0.080 10 113729891 3 prime UTR variant T/G snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs11040869
rs11040869 		2 0.925 0.080 11 1263382 downstream gene variant G/A snv 1.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs11084490
rs11084490
AURKC
2 0.925 0.080 19 57231104 5 prime UTR variant G/A;C;T snv 0.87; 3.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs11088680
rs11088680 		2 0.925 0.080 21 13514758 upstream gene variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs11133399
rs11133399
CLOCK
2 0.925 0.080 4 55547664 non coding transcript exon variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs11170877
rs11170877
COPZ1
2 0.925 0.080 12 54340505 start lost A/G snv 0.16 0.17 0.010 1.000 1 2014 2014
dbSNP: rs112310158
rs112310158
CDC20B ; MIR449A ; MIR449B
2 0.925 0.080 5 55170550 non coding transcript exon variant G/A snv 1.7E-03 7.5E-03 0.010 1.000 1 2015 2015
dbSNP: rs1126760
rs1126760
IL11 ; FAM71E2
2 0.925 0.080 19 55364706 3 prime UTR variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs112754928
rs112754928
SPOCD1
2 0.925 0.080 1 31815123 missense variant G/A;T snv 4.5E-03; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1127687
rs1127687
CASP7
2 0.925 0.080 10 113730350 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1141023
rs1141023
TRIM59 ; TRIM59-IFT80
2 0.925 0.080 3 160439163 synonymous variant C/T snv 0.15 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1165109290
rs1165109290
SOD2
2 0.925 0.080 6 159692850 synonymous variant G/A snv 4.2E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs11656976
rs11656976
TOB1 ; TOB1-AS1
2 0.925 0.080 17 50869478 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11695471
rs11695471
DNMT3A
2 0.925 0.080 2 25234839 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11944405
rs11944405
LAMTOR3
2 0.925 0.080 4 99878804 3 prime UTR variant T/C snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs12231393
rs12231393
COPZ1
2 0.925 0.080 12 54318989 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs12247479
rs12247479
CASP7
2 0.925 0.080 10 113730301 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1230025
rs1230025
LOC100507053
2 0.925 0.080 4 99265219 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1235001018
rs1235001018
GOLGB1
2 0.925 0.080 3 121729917 missense variant T/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs12479919
rs12479919
SLC23A2
2 0.925 0.080 20 5000094 intron variant C/T snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs12601477
rs12601477
TOB1 ; TOB1-AS1
2 0.925 0.080 17 50868277 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12610531
rs12610531
TINCR
2 0.925 0.080 19 5559819 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1279599
rs1279599
AMD1
2 0.925 0.080 6 110879025 intron variant G/A snv 0.87 0.010 1.000 1 2015 2015