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: 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: rs2160203
rs2160203
IL18R1 ; IL1RL1
2 1.000 0.080 2 102344364 3 prime UTR variant A/C;G snv 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: 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: rs1060499550
rs1060499550
ZNF462
1 1.000 0.080 9 106926891 frameshift variant TG/A delins 0.700 0
dbSNP: rs1060499549
rs1060499549
ZNF462
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs1060499551
rs1060499551
ZNF462
1 1.000 0.080 9 106928174 frameshift variant A/- delins 0.700 0
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: 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: rs1057518791
rs1057518791
TRPS1
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
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: rs1621
rs1621
MET
2 0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
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: rs1483757
rs1483757
NOS1
3 0.925 0.160 12 117323735 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs9658281
rs9658281
NOS1
1 1.000 0.080 12 117329773 intron variant C/G;T snv 0.010 1.000 1 2011 2011
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: 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: 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: rs777169135
rs777169135
FGFR2
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs121918506
rs121918506
FGFR2
3 0.882 0.080 10 121496701 missense variant T/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs1057520044
rs1057520044
FGFR2
1 1.000 0.080 10 121498597 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs765241522
rs765241522
FGFR2
1 1.000 0.080 10 121503799 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs761012674
rs761012674
FGFR2
1 1.000 0.080 10 121503884 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011