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: 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 13 2009 2019
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: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.720 1.000 4 2007 2019
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: 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: rs10775480
rs10775480
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 2 2013 2014
dbSNP: rs11543198
rs11543198
CLK3
3 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 0.710 1.000 1 2015 2015
dbSNP: rs2042329
rs2042329
CWC27
3 0.882 0.120 5 64771925 intron variant T/C;G snv 0.710 1.000 1 2016 2016
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: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 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 2009 2014
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: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913480
rs121913480
FGFR3
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913484
rs121913484
FGFR3
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs12216499
rs12216499
RSPH3
1 1.000 0.120 6 158947492 intergenic variant G/T snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs1258767
rs1258767
FMN1
1 1.000 0.120 15 32834253 intron variant A/G snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs180940944
rs180940944
NBEA
1 1.000 0.120 13 35375956 intron variant C/T snv 2.1E-02 0.700 1.000 1 2019 2019