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: rs34445740
rs34445740
SMAD3
2 0.925 0.080 15 67183426 intron variant -/A delins 0.29 0.700 1.000 1 2019 2019
dbSNP: rs113092121
rs113092121
KIF11
2 0.925 0.080 10 92624756 intron variant -/CTCT delins 0.700 1.000 1 2019 2019
dbSNP: rs149317277
rs149317277
ITGB8
2 0.925 0.080 7 20384300 intron variant -/GAAACAAGATTCT;GAACCAAGATTCT delins 0.36 0.700 1.000 1 2019 2019
dbSNP: rs11412402
rs11412402
EEFSEC
2 0.925 0.080 3 128194003 intron variant -/T ins 0.65 0.700 1.000 1 2019 2019
dbSNP: rs140522418
rs140522418
LOC107984408
2 0.925 0.080 11 128302942 intergenic variant A/-;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs4790522
rs4790522
TRPV1
2 0.925 0.080 17 3566559 3 prime UTR variant A/C snv 0.55 0.020 1.000 2 2015 2015
dbSNP: rs1342326
rs1342326 		9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1775554
rs1775554 		3 0.882 0.080 10 9012377 intergenic variant A/C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs2051809
rs2051809
KIF3A
1 1.000 0.080 5 132721182 intron variant A/C snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs35141484
rs35141484
KLHL5 ; LOC105374418
1 1.000 0.080 4 39086721 synonymous variant A/C snv 5.6E-03 2.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs8029377
rs8029377 		1 1.000 0.080 15 59899786 intergenic variant A/C snv 3.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs12531500
rs12531500 		2 0.925 0.080 7 20504586 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs17103286
rs17103286 		2 0.925 0.080 14 35415835 regulatory region variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs8179521
rs8179521
MAP3K2-DT
1 1.000 0.080 2 127393348 intron variant A/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2378383
rs2378383 		1 1.000 0.080 9 79424447 intergenic variant A/C;G;T snv 0.810 1.000 1 2009 2009
dbSNP: rs2299012
rs2299012
RAD50
2 0.925 0.080 5 132581248 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7793837
rs7793837
CRHR2
1 1.000 0.080 7 30687161 intron variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs479844
rs479844 		6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.700 1.000 3 2015 2019
dbSNP: rs12964116
rs12964116
SERPINB7
2 0.925 0.080 18 63775385 5 prime UTR variant A/G snv 3.0E-02 0.700 1.000 2 2019 2019
dbSNP: rs13277355
rs13277355 		3 0.882 0.120 8 127765473 intergenic variant A/G snv 0.71 0.700 1.000 2 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2007 2010
dbSNP: rs569108
rs569108
MS4A2
8 0.790 0.200 11 60095631 missense variant A/G snv 4.7E-02 7.3E-02 0.020 1.000 2 2009 2016