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: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.050 1.000 5 2009 2014
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.050 1.000 5 2009 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.050 0.800 5 2014 2017
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.040 1.000 4 2015 2017
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.040 1.000 4 2014 2019
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.030 1.000 3 2007 2014
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.030 1.000 3 2015 2019
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.030 1.000 3 2009 2012
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.030 1.000 3 2012 2017
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.020 1.000 2 2009 2014
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.020 1.000 2 2008 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2011 2016
dbSNP: rs16861205
rs16861205
ADIPOQ
3 3 186843845 intron variant G/A snv 0.14 0.020 1.000 2 2011 2013
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.020 1.000 2 2009 2014
dbSNP: rs184003
rs184003
AGER
15 0.724 0.400 6 32182519 intron variant C/A snv 0.12 0.12 0.020 1.000 2 2018 2019
dbSNP: rs1859962
rs1859962
CASC17
4 0.882 0.160 17 71112612 intron variant G/T snv 0.56 0.020 1.000 2 2011 2016
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.020 1.000 2 2015 2019
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.020 1.000 2 2015 2016
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2014 2018
dbSNP: rs3817198
rs3817198
LSP1
8 0.790 0.280 11 1887776 intron variant T/C snv 0.26 0.020 1.000 2 2011 2015
dbSNP: rs4295627
rs4295627
CCDC26
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.020 1.000 2 2010 2013
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.020 1.000 2 2014 2015
dbSNP: rs4645981
rs4645981
CASP9 ; DNAJC16
11 0.790 0.160 1 15524988 intron variant G/A;C snv 0.020 1.000 2 2013 2017
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.020 1.000 2 2010 2012
dbSNP: rs744166
rs744166
STAT3
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.020 1.000 2 2014 2016