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: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs397515514
rs397515514
FGFR3
2 0.925 0.080 4 1807261 stop lost G/T snv 0.700 0
dbSNP: rs757744435
rs757744435
NPR2
4 1.000 0.080 9 35794009 missense variant A/G;T snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
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: rs886043613
rs886043613
FGFR3
4 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0
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: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.040 1.000 4 1999 2014
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: 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
8 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
2 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
4 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
6 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
3 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
4 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918488
rs121918488
FGFR2
7 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