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: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
4 0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67 0.020 1.000 2 2013 2018
dbSNP: rs1520220
rs1520220
IGF1 ; LINC02456
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2018 2018
dbSNP: rs2195239
rs2195239
IGF1 ; LINC02456
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs12423791
rs12423791
IGF1
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs2162679
rs2162679
IGF1
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.060 1.000 6 2011 2017
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1598859
rs1598859
NFKB1
4 0.925 0.080 4 102585287 intron variant T/C snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs35866072
rs35866072
MMP8
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.030 1.000 3 2018 2019
dbSNP: rs34009635
rs34009635
MMP8
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.020 1.000 2 2018 2018
dbSNP: rs750521832
rs750521832
MMP8
14 0.732 0.200 11 102718452 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1940475
rs1940475
MMP8
4 1.000 0.040 11 102722517 missense variant T/C;G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 < 0.001 1 2016 2016
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.040 1.000 4 2012 2017
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.050 1.000 5 2012 2017
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2017 2017
dbSNP: rs2227869
rs2227869
ERCC5 ; BIVM-ERCC5
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs2075356
rs2075356
GHRL ; GHRLOS
5 0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.050 0.800 5 2012 2018