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: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.800 0.962 26 1996 2020
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
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: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.780 1.000 8 1995 2020
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 1 2011 2011
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: rs121913116
rs121913116
FGFR3
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1211533350
rs1211533350
FGFR3
5 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.070 1.000 7 1998 2018
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: 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: rs80053154
rs80053154
FGFR3
2 0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06 0.730 1.000 3 1998 2017
dbSNP: rs1057520029
rs1057520029
FGFR2
4 0.925 0.120 10 121488003 missense variant T/A snv 0.010 1.000 1 2000 2000
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: rs869025672
rs869025672
FGFR1
2 0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121913114
rs121913114
FGFR3
2 0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs28928868
rs28928868
FGFR3
2 0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06 0.700 0
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: rs1336912774
rs1336912774
TGM2
1 1.000 0.120 20 38139648 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013