Source: BEFREE ×
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: rs4647924
rs4647924
FGFR3
24 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.800 0.944 12 1997 2016
dbSNP: rs78311289
rs78311289
FGFR3
20 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 2 1998 2011
dbSNP: rs121913105
rs121913105
FGFR3
18 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 1 1999 2016
dbSNP: rs121918487
rs121918487
FGFR2
5 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs776587763
rs776587763
FGFR2
3 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2017 2017
dbSNP: rs79184941
rs79184941
FGFR2
27 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: rs77543610
rs77543610
FGFR2
19 0.667 0.560 10 121520160 missense variant G/C snv 0.040 1.000 4 1999 2014
dbSNP: rs121918504
rs121918504
FGFR2
3 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.030 1.000 3 2000 2004
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: rs121909627
rs121909627
FGFR1
6 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.020 1.000 2 1997 2000
dbSNP: rs756016701
rs756016701
FGFR1
3 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.020 1.000 2 2000 2002
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: rs10204137
rs10204137
IL18R1 ; IL1RL1
1 0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs10208293
rs10208293
IL18R1 ; IL1RL1
1 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs10246939
rs10246939
TAS2R38 ; MGAM
4 0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 0.010 1.000 1 2014 2014
dbSNP: rs104893895
rs104893895
MSX2
2 0.882 0.160 5 174729222 missense variant C/A;T snv 0.010 1.000 1 1996 1996
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: rs121908671
rs121908671
LRP5
2 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918488
rs121918488
FGFR2
5 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121918501
rs121918501
FGFR2
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 2012 2012
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: rs1224606327
rs1224606327
FGFR2
1 1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12793173
rs12793173
LOC102723568
1 0.925 0.160 11 34812657 intergenic variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12883884
rs12883884
SLC8A3
1 1.000 0.080 14 70050466 intron variant T/C;G snv 0.010 1.000 1 2017 2017