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: rs243330
rs243330
SOCS1 ; RMI2 ; LOC105371082
4 0.851 0.240 16 11257134 intron variant C/T snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs2453021
rs2453021
TNFRSF9
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2518136
rs2518136
AHSG
4 0.851 0.120 3 186620038 intron variant T/C snv 0.46 0.010 < 0.001 1 2012 2012
dbSNP: rs2820315
rs2820315
LMOD1
5 0.882 0.040 1 201903136 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs33932899
rs33932899
SOCS1 ; RMI2 ; LOC105371082
4 0.851 0.240 16 11254354 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3829251
rs3829251
NADSYN1
8 0.851 0.120 11 71483513 intron variant G/A snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs3861950
rs3861950
TNFSF4
7 0.827 0.160 1 173187153 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs4076317
rs4076317
ANGPTL4
5 0.882 0.080 19 8364115 intron variant C/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs4142986
rs4142986
COL15A1
2 0.925 0.040 9 99052344 intron variant C/A;G;T snv 1.1E-04; 0.75; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4252120
rs4252120
PLG
5 0.827 0.080 6 160722576 intron variant T/C;G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs4380028
rs4380028
MORF4L1
7 0.807 0.120 15 78818751 intron variant C/T snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs4712972
rs4712972
SLC17A1 ; SLC17A4
3 0.882 0.160 6 25771819 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs4803455
rs4803455
TGFB1
11 0.752 0.280 19 41345604 intron variant C/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs4821480
rs4821480
MYH9
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs4845623
rs4845623
IL6R
4 0.925 0.040 1 154443301 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs4862423
rs4862423
ACSL1
4 0.882 0.080 4 184805394 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs4888378
rs4888378
CFDP1
4 0.851 0.040 16 75298143 intron variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs4901536
rs4901536
SAMD4A
2 0.925 0.080 14 54733816 intron variant T/C snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs495392
rs495392
KL
2 1.000 0.040 13 33018055 intron variant C/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs499952
rs499952
MRE11
2 0.925 0.040 11 94449826 intron variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs562020
rs562020
KL
1 1.000 0.040 13 33017932 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs567170
rs567170
KL
1 1.000 0.040 13 33043649 intron variant C/G snv 0.32 0.010 1.000 1 2019 2019