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: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.780 1.000 8 1995 2020
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.720 1.000 2 2008 2018
dbSNP: rs1057520029
rs1057520029
FGFR2
4 0.925 0.120 10 121488003 missense variant T/A snv 0.010 1.000 1 2000 2000
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs11122316
rs11122316
GALNT2
2 1.000 0.120 1 230101356 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1168013
rs1168013
DOCK7
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913115
rs121913115
FGFR3
2 1.000 0.120 4 1801928 missense variant A/G snv 0.710 1.000 1 2013 2013
dbSNP: rs121913116
rs121913116
FGFR3
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1466727439
rs1466727439
FGFR1
1 1.000 0.120 8 38414814 missense variant T/C snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1997947
rs1997947
GALNT2
2 1.000 0.120 1 230148017 intron variant G/A snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs2075290
rs2075290
ZPR1
10 0.882 0.160 11 116782580 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs267606808
rs267606808
FGFR3
3 0.882 0.120 4 1805396 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs2760537
rs2760537
GALNT2
2 1.000 0.120 1 230190666 intron variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs4846913
rs4846913
GALNT2
4 1.000 0.120 1 230158968 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs615563
rs615563
PCSK9
2 1.000 0.120 1 55060623 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs7552841
rs7552841
PCSK9
3 0.925 0.160 1 55053079 intron variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2014 2014
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs587778769
rs587778769
FGFR3
1 1.000 0.120 4 1799488 missense variant A/T snv 0.700 0
dbSNP: rs587778775
rs587778775
FGFR3
1 1.000 0.120 4 1803785 missense variant G/A;T snv 0.700 0
dbSNP: rs587778801
rs587778801
FGFR3
1 1.000 0.120 4 1801518 synonymous variant C/T snv 0.700 0
dbSNP: rs587778811
rs587778811
FGFR3
1 1.000 0.120 4 1801896 synonymous variant G/T snv 0.700 0
dbSNP: rs587778816
rs587778816
FGFR3
1 1.000 0.120 4 1803731 missense variant C/A;G snv 0.700 0