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: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2016 2016
dbSNP: rs17887218
rs17887218
TGFBR3
2 0.925 0.040 1 91714361 intron variant C/T snv 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2820443
rs2820443 		8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs4920343
rs4920343 		1 1.000 0.040 1 18775271 intergenic variant G/A snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs10190094
rs10190094
AGAP1
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs12470967
rs12470967
LOC729254
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2019 2019
dbSNP: rs17039192
rs17039192
EPAS1
4 0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs17567417
rs17567417
LTBP1
2 1.000 0.040 2 33205536 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2061026
rs2061026
LTBP1
1 1.000 0.040 2 33210282 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs3917225
rs3917225
IL1R1
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs3917318
rs3917318
IL1R1
1 1.000 0.040 2 102176300 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs4144782
rs4144782
EN1
2 0.925 0.040 2 118844296 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs419598
rs419598
IL1RN
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2013 2013
dbSNP: rs4630744
rs4630744
LTBP1
2 0.925 0.040 2 33236308 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs585017
rs585017
RHOB
1 1.000 0.040 2 20446871 upstream gene variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs6725958
rs6725958
FN1
1 1.000 0.040 2 215397898 intron variant A/C snv 0.61 0.61 0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 < 0.001 1 2011 2011
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019