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: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.820 1.000 4 1999 2019
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.800 1.000 12 2009 2019
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.800 1.000 2 1999 2001
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.800 1.000 2 1999 2001
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 0
dbSNP: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.770 0.889 9 2010 2017
dbSNP: rs9642880
rs9642880
CASC11
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.760 1.000 9 2008 2015
dbSNP: rs710521
rs710521 		4 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 0.740 1.000 8 2008 2018
dbSNP: rs11892031
rs11892031
UGT1A10 ; UGT1A8
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.730 0.750 4 2010 2015
dbSNP: rs17674580
rs17674580
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.730 1.000 3 2011 2014
dbSNP: rs1495741
rs1495741 		9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.720 1.000 4 2010 2016
dbSNP: rs1014971
rs1014971 		3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.720 1.000 3 2010 2016
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.720 1.000 3 2014 2019
dbSNP: rs8102137
rs8102137 		3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.720 1.000 3 2010 2014
dbSNP: rs10775480
rs10775480
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 3 2011 2014
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.710 0.667 3 2010 2014
dbSNP: rs62185668
rs62185668 		3 0.925 0.120 20 10981287 intron variant C/A snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs121913479
rs121913479
FGFR3
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 1999 2001
dbSNP: rs10094872
rs10094872
CASC11
4 0.882 0.200 8 127707639 intron variant A/T snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs2204008
rs2204008 		1 1.000 0.120 12 38045401 intergenic variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4510656
rs4510656
CDKAL1
2 0.925 0.120 6 20766466 intron variant C/A snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs4813953
rs4813953
LINC02871
1 1.000 0.120 20 11010490 intron variant T/C snv 0.63 0.700 1.000 1 2014 2014
dbSNP: rs5003154
rs5003154
PAG1
2 0.925 0.120 8 81074718 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs6104690
rs6104690
LINC02871
2 0.925 0.120 20 11007451 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7238033
rs7238033
SLC14A1 ; LOC105372093
2 0.925 0.120 18 45737001 intron variant T/C snv 0.61 0.700 1.000 1 2011 2011