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: rs2311978
rs2311978 		1 1.000 0.080 X 76568453 intergenic variant C/T snv 0.58 0.700 1.000 1 2007 2007
dbSNP: rs5953283
rs5953283
PPP1R3F
2 0.925 0.080 X 49283326 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs850637
rs850637 		2 0.925 0.080 X 13005622 intergenic variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs140179402
rs140179402
BCL2L13
2 1.000 0.080 22 17685512 intron variant C/T snv 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs2037986
rs2037986
LINC01697
1 1.000 0.080 21 28104158 intron variant G/T snv 0.44 0.700 1.000 1 2007 2007
dbSNP: rs528557
rs528557
ADAM33
6 0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29 0.020 0.500 2 2015 2017
dbSNP: rs117420762
rs117420762
SLC2A10
2 1.000 0.080 20 46719767 intron variant C/A snv 5.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs2280089
rs2280089
ADAM33
2 0.925 0.080 20 3669480 non coding transcript exon variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2280091
rs2280091
ADAM33
3 0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2766667
rs2766667
LOC101927770
2 0.925 0.080 20 53555865 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2787094
rs2787094
ADAM33
4 0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs2853209
rs2853209
ADAM33
5 0.827 0.200 20 3670825 intron variant T/A snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs44707
rs44707
ADAM33
2 0.925 0.080 20 3670579 non coding transcript exon variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs511898
rs511898
ADAM33
2 0.925 0.080 20 3674438 3 prime UTR variant C/T snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs6054973
rs6054973 		1 1.000 0.080 20 7405311 intergenic variant T/C snv 4.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs678881
rs678881
ADAM33
2 0.925 0.080 20 3669156 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10414065
rs10414065 		4 0.882 0.080 19 33230549 upstream gene variant C/T snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs117710327
rs117710327 		5 0.882 0.080 19 33235672 TF binding site variant C/A snv 5.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs137939366
rs137939366
ELSPBP1
2 1.000 0.080 19 48019433 intron variant T/- del 1.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs2918302
rs2918302
LINC01862 ; LOC107983991
2 0.925 0.080 19 8675909 intron variant G/A snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs3752120
rs3752120
ZNF432
1 1.000 0.080 19 52048768 5 prime UTR variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs4807630
rs4807630
SBNO2 ; LOC102725180
1 1.000 0.080 19 1170446 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs5491
rs5491
ICAM1
6 0.827 0.160 19 10274864 missense variant A/G;T snv 4.0E-06; 2.8E-02 0.010 1.000 1 2014 2014