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: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2244438
rs2244438
TRAK2
4 0.882 0.080 2 201387816 missense variant G/A;T snv 0.29; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs315919
rs315919
IL1RN
5 0.851 0.120 2 113118636 intron variant T/G snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs3181052
rs3181052
IL1RN
5 0.851 0.120 2 113128472 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs3738894
rs3738894
PRKCE
4 0.882 0.080 2 46187030 3 prime UTR variant G/A snv 1.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs452204
rs452204
IL1RN
7 0.807 0.200 2 113131484 intron variant G/A snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
COL6A3
4 0.882 0.120 2 237401239 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs7436
rs7436
COL6A3
3 0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.030 0.667 3 2001 2019
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2243115
rs2243115
IL12A ; IL12A-AS1
12 0.776 0.320 3 159988493 intron variant T/G snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs6772209
rs6772209 		2 1.000 0.080 3 175929377 intergenic variant G/A snv 4.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs767551092
rs767551092
XPC
10 0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs9841504
rs9841504
ZBTB20
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9868873
rs9868873
SEMA5B
2 1.000 0.080 3 123012063 intron variant G/A snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs104893819
rs104893819
TGFBR2
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.750 1.000 6 2009 2016
dbSNP: rs353163
rs353163
TMPRSS11A ; UBA6-AS1
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2006 2013
dbSNP: rs10002268
rs10002268 		1 1.000 0.080 4 55653725 intergenic variant T/C snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs1014867
rs1014867
FAT4
3 0.925 0.080 4 125491736 missense variant C/T snv 4.9E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1039808
rs1039808
FAT4
3 0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs11934363
rs11934363
SLC2A9
1 1.000 0.080 4 9910477 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011