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: rs1015443
rs1015443
PRH1 ; PRR4 ; TAS2R13 ; PRH1-PRR4
2 0.925 0.160 12 10908523 missense variant T/A;C snv 4.0E-06; 0.59 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: rs10204137
rs10204137
IL18R1 ; IL1RL1
2 0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 0.010 1.000 1 2009 2009
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: rs140598
rs140598
FBN1
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
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: rs200215055
rs200215055
FCGR3B
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 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: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.050 1.000 5 2004 2017
dbSNP: rs121918504
rs121918504
FGFR2
9 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.030 1.000 3 2000 2004
dbSNP: rs886043448
rs886043448
DNAH5
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs771148519
rs771148519
WDR19
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 9 1995 2014
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 6 1995 2015
dbSNP: rs981703846
rs981703846
FGFR1
3 0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2000 2011
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.800 0.944 18 1997 2016
dbSNP: rs121909627
rs121909627
FGFR1
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.020 1.000 2 1997 2000
dbSNP: rs28928868
rs28928868
FGFR3
2 0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06 0.700 1.000 4 2000 2010