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: rs9958292
rs9958292 		1 1.000 0.040 18 7303203 upstream gene variant G/T snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs967004
rs967004 		1 1.000 0.040 4 141923771 intergenic variant G/A snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs879253743
rs879253743
NPAS2 ; NPAS2-AS1
1 1.000 0.040 2 100975538 missense variant C/A;G snv 0.700 0
dbSNP: rs876660612
rs876660612
APC
1 1.000 0.040 5 112819236 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs852977
rs852977
NR3C1
1 1.000 0.040 5 143307929 intron variant A/G snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs821693
rs821693 		1 1.000 0.040 10 106360432 intergenic variant A/G;T snv 0.87 0.700 1.000 1 2011 2011
dbSNP: rs8060684
rs8060684
LOC101927026
1 1.000 0.040 16 9609060 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs79822589
rs79822589
CLCA4
1 1.000 0.040 1 86565961 synonymous variant T/C snv 6.5E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs7802723
rs7802723 		1 1.000 0.040 7 138244561 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs7747521
rs7747521
HLA-DRB9
1 1.000 0.040 6 32463328 intron variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs771771089
rs771771089
SEPTIN12
1 1.000 0.040 16 4783515 stop gained G/A;C;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs770564395
rs770564395
MEI1
1 1.000 0.040 22 41784745 missense variant C/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs763334876
rs763334876
CLCA4
1 1.000 0.040 1 86567425 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs759981524
rs759981524
CLCA4 ; CLCA4-AS1
1 1.000 0.040 1 86579956 missense variant A/C;G;T snv 2.6E-05; 8.6E-06; 3.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs757773924
rs757773924
CLCA4 ; CLCA4-AS1
1 1.000 0.040 1 86578055 missense variant C/G;T snv 1.6E-05; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs754185453
rs754185453
CDC20
1 1.000 0.040 1 43361189 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs7523497
rs7523497 		1 1.000 0.040 1 62387475 regulatory region variant A/G snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs7317862
rs7317862
FAM155A
1 1.000 0.040 13 107253690 intron variant A/C snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs7226979
rs7226979
BCL2
3 0.925 0.120 18 63257737 intron variant C/T snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs7194
rs7194
HLA-DRA
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.020 1.000 2 2014 2017
dbSNP: rs7192993
rs7192993 		1 1.000 0.040 16 7961213 intron variant A/G snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs718772
rs718772
HORMAD2
2 0.925 0.120 22 30108218 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs7166401
rs7166401
CHSY1
1 1.000 0.040 15 101235913 intron variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs7099208
rs7099208
FAM160B1
1 1.000 0.040 10 114894815 intron variant A/G snv 0.36 0.010 1.000 1 2014 2014