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: rs12023876
rs12023876
ADORA1
2 0.925 0.080 1 203124073 intron variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs16903574
rs16903574
OTULINL
6 0.882 0.120 5 14610200 missense variant C/A;G snv 4.0E-06; 5.6E-02 0.700 1.000 2 2019 2019
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: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.710 1.000 2 2007 2019
dbSNP: rs72823641
rs72823641
IL18R1 ; IL1RL1
4 0.882 0.080 2 102319699 intron variant T/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs8069176
rs8069176 		4 0.882 0.080 17 39900944 downstream gene variant G/A;T snv 0.800 1.000 2 2007 2018
dbSNP: rs928413
rs928413
IL33
7 0.807 0.120 9 6213387 upstream gene variant G/A;C snv 0.700 1.000 2 2014 2019
dbSNP: rs10036789
rs10036789 		3 1.000 0.080 5 72400091 regulatory region variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10158467
rs10158467 		2 0.925 0.080 1 173162354 regulatory region variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10175070
rs10175070
CCL20
1 1.000 0.080 2 227805859 5 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs10924993
rs10924993 		2 0.925 0.080 1 236296485 intergenic variant T/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10995245
rs10995245
ZNF365 ; LOC105378327
3 0.882 0.160 10 62631615 intron variant G/A;C snv 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: rs121912633
rs121912633
TRPV4
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1220579705
rs1220579705
IL4
1 1.000 0.080 5 132674079 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs12413578
rs12413578 		4 0.882 0.160 10 9007290 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12531500
rs12531500 		2 0.925 0.080 7 20504586 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs13090972
rs13090972 		2 1.000 0.080 3 89027746 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13416555
rs13416555
LINC00299
3 1.000 0.080 2 8301605 intron variant C/A;G snv 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: rs142320277
rs142320277
LRP1B
2 1.000 0.080 2 140665410 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1530976
rs1530976
SLC4A4
1 1.000 0.080 4 71527674 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs16925517
rs16925517
LINC01505
1 1.000 0.080 9 106484720 intron variant G/A;C snv 0.700 1.000 1 2013 2013