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: rs4532099
rs4532099
LINC00877
1 1.000 0.080 3 72266805 intron variant T/C snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
dbSNP: rs6907229
rs6907229
KCNQ5
1 1.000 0.080 6 73174426 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2011 2011
dbSNP: rs10246939
rs10246939
TAS2R38 ; MGAM
6 0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 0.010 1.000 1 2014 2014
dbSNP: rs4988957
rs4988957
IL18R1 ; IL1RL1
2 1.000 0.080 2 102351615 missense variant T/C;G snv 0.34; 4.0E-06 0.46 0.010 1.000 1 2009 2009
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2019 2019
dbSNP: rs4504543
rs4504543
AOAH
1 1.000 0.080 7 36643290 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1884302
rs1884302 		4 0.851 0.120 20 7125642 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs42336
rs42336 		1 1.000 0.080 7 116801535 downstream gene variant A/G snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs10208293
rs10208293
IL18R1 ; IL1RL1
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs12226919
rs12226919
PRH1 ; PRR4 ; TAS2R14 ; TAS2R20 ; PRH1-PRR4 ; PRH1-TAS2R14
1 1.000 0.080 12 10997434 missense variant G/T snv 0.42 0.30 0.010 1.000 1 2014 2014
dbSNP: rs12226920
rs12226920
PRH1 ; PRR4 ; TAS2R14 ; TAS2R20 ; PRH1-PRR4 ; PRH1-TAS2R14
1 1.000 0.080 12 10997447 missense variant G/T snv 0.42 0.29 0.010 1.000 1 2014 2014
dbSNP: rs12188164
rs12188164
AHRR
1 1.000 0.080 5 428121 intron variant C/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs2282851
rs2282851
TAPBP
1 1.000 0.080 6 33312532 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs3810831
rs3810831
CD8A
1 1.000 0.080 2 86791424 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs38850
rs38850
MET
1 1.000 0.080 7 116697595 intron variant G/A snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs12793173
rs12793173
LOC102723568
2 0.925 0.160 11 34812657 intergenic variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs13431828
rs13431828
IL18R1 ; IL1RL1
3 0.925 0.160 2 102338193 5 prime UTR variant C/T snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs2917454
rs2917454
KCNMA1
1 1.000 0.080 10 77132657 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3804100
rs3804100
TLR2
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs34210653
rs34210653
ALOX15
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs142511858
rs142511858
SOX6
1 1.000 0.080 11 16341047 missense variant C/T snv 1.3E-03 6.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs1458741036
rs1458741036
FGFR2
2 0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05 0.010 1.000 1 1997 1997