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: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.040 1.000 4 2018 2018
dbSNP: rs1871054
rs1871054
ADAM12
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.040 0.750 4 2009 2017
dbSNP: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.030 0.333 3 2008 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.030 1.000 3 2008 2014
dbSNP: rs8044769
rs8044769
FTO
6 0.851 0.200 16 53805223 intron variant T/A;C;G snv 0.030 0.667 3 2014 2018
dbSNP: rs11842874
rs11842874
MCF2L
1 1.000 0.040 13 113040195 intron variant A/G snv 0.12 0.810 1.000 2 2011 2015
dbSNP: rs12982744
rs12982744
DOT1L
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.810 1.000 2 2012 2018
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 0.500 2 2018 2019
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2010 2015
dbSNP: rs3771501
rs3771501
TGFA
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 2 2018 2019
dbSNP: rs715572
rs715572
TIMP3 ; SYN3
3 0.925 0.040 22 32838944 intron variant G/A snv 0.18 0.020 1.000 2 2015 2017
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2014 2015
dbSNP: rs10172410
rs10172410
ITGA4
1 1.000 0.040 2 181487841 intron variant T/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs10218792
rs10218792
KIF26B
1 1.000 0.040 1 245587630 intron variant T/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1032128
rs1032128
TNFRSF11B
1 1.000 0.040 8 118939534 intron variant G/A snv 0.30 0.010 < 0.001 1 2019 2019
dbSNP: rs1034528
rs1034528
MTOR ; ANGPTL7
5 0.882 0.120 1 11189075 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1034762
rs1034762
COL2A1
1 1.000 0.040 12 47995860 intron variant A/C snv 0.74 0.79 0.700 1.000 1 2012 2012
dbSNP: rs10401670
rs10401670
MCEMP1
1 1.000 0.040 19 7677916 intron variant T/C;G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs10502437
rs10502437
TMEM241
1 1.000 0.040 18 23390742 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2019 2019
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.800 1.000 1 2012 2012
dbSNP: rs10974438
rs10974438
GLIS3
3 0.925 0.120 9 4291928 intron variant A/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11107957
rs11107957
NAV3
1 1.000 0.040 12 78038275 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11409738
rs11409738
DYNC1I1
1 1.000 0.040 7 96090522 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2007 2007