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: rs995343
rs995343
SLC16A7
2 0.925 0.120 12 59685594 intron variant G/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs9927981
rs9927981
HP ; TXNL4B
1 1.000 0.080 16 72054753 non coding transcript exon variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs9912773
rs9912773
STAT3
1 1.000 0.080 17 42358516 intron variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs9909179
rs9909179 		1 1.000 0.080 17 13140986 regulatory region variant T/C snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs984755949
rs984755949
COL11A2
1 1.000 0.080 6 33172302 missense variant A/C snv 0.030 1.000 3 2011 2018
dbSNP: rs979090956
rs979090956
ABCB1
5 0.827 0.200 7 87553822 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs9752
rs9752
SFTPB
1 1.000 0.080 2 85659544 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs969088
rs969088 		1 1.000 0.080 5 26389153 intron variant G/C snv 9.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs967591
rs967591
PPP1R13L ; CD3EAP
4 0.851 0.080 19 45406676 5 prime UTR variant G/A;C;T snv 0.22; 6.7E-06 0.020 1.000 2 2013 2017
dbSNP: rs9660710
rs9660710 		1 1.000 0.080 1 1163962 upstream gene variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9657904
rs9657904
CBLB ; LOC107986109
3 0.925 0.160 3 105867870 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs9651118
rs9651118
MTHFR
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs9642391
rs9642391
EGFR
1 1.000 0.080 7 55177671 intron variant G/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs9625921
rs9625921
HORMAD2
1 1.000 0.080 22 30112286 intron variant C/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs959173
rs959173
CAV1
2 0.925 0.120 7 116542000 intron variant C/T snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs958335893
rs958335893
ALK
1 1.000 0.080 2 29193478 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs9582036
rs9582036
FLT1
8 0.776 0.280 13 28311271 intron variant C/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs9535826
rs9535826
ATP7B
4 0.851 0.080 13 51991990 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs9526814
rs9526814
ATP7B
1 1.000 0.080 13 51965390 intron variant T/G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs941759532
rs941759532
ERCC4
11 0.763 0.240 16 13932175 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs9390123
rs9390123
PHACTR2
1 1.000 0.080 6 143622177 intron variant T/C snv 0.60 0.010 < 0.001 1 2014 2014
dbSNP: rs938836
rs938836
NOCT
1 1.000 0.080 4 139018499 intron variant G/A snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs937282
rs937282
MDM2
1 1.000 0.080 12 68808017 upstream gene variant C/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs931127
rs931127
SIPA1 ; PCNX3
12 0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs9295740
rs9295740 		5 0.827 0.120 6 27721723 intergenic variant G/A snv 0.27 0.010 1.000 1 2013 2013