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: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 1.000 2 2008 2014
dbSNP: rs1682111
rs1682111
ACYP2
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.020 1.000 2 2017 2019
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 0.500 2 2018 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 0.500 2 2014 2015
dbSNP: rs843645
rs843645
ACYP2
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.020 1.000 2 2017 2019
dbSNP: rs1234220
rs1234220
PTEN
4 0.851 0.080 10 87885716 intron variant A/G snv 9.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs12732894
rs12732894
ARHGEF10L
3 0.882 0.080 1 17582733 intron variant G/A snv 1.6E-02 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 2008 2008
dbSNP: rs1760893
rs1760893
TEP1
6 0.807 0.080 14 20412501 intron variant C/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2299939
rs2299939
PTEN
5 0.827 0.080 10 87897393 intron variant C/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs230496
rs230496
NFKB1
3 0.882 0.080 4 102567334 intron variant G/A snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs230530
rs230530
NFKB1
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs3212948
rs3212948
ERCC1
10 0.776 0.160 19 45421104 intron variant G/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs3811741
rs3811741
PLK4
3 0.882 0.080 4 127882004 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs4024
rs4024
AFP
7 0.827 0.120 4 73435667 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs5854292
rs5854292
EGFEM1P
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs6713088
rs6713088
ACYP2
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs737241
rs737241
AFP
7 0.827 0.120 4 73451012 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs843711
rs843711
ACYP2
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2244444
rs2244444
ARHGEF10L
3 0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 0.010 1.000 1 2019 2019