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: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 7 1995 2013
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 6 1999 2016
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 1.000 5 1996 2015
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 4 1996 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: rs121913113
rs121913113
FGFR3
3 0.882 0.240 4 1806076 missense variant G/A snv 0.700 1.000 2 2006 2016
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: rs104893895
rs104893895
MSX2
3 0.882 0.160 5 174729222 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1057520044
rs1057520044
FGFR2
1 1.000 0.080 10 121498597 missense variant T/C snv 0.700 1.000 1 2007 2007
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: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 1 2017 2017
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: rs121918506
rs121918506
FGFR2
3 0.882 0.080 10 121496701 missense variant T/C;G snv 0.700 1.000 1 2007 2007
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: rs12883884
rs12883884
SLC8A3
1 1.000 0.080 14 70050466 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
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: 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
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: 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: rs1884302
rs1884302 		4 0.851 0.120 20 7125642 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
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: rs2282851
rs2282851
TAPBP
1 1.000 0.080 6 33312532 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013