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: 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: 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: 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
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: 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: rs747718232
rs747718232
FGFR2
3 1.000 0.120 10 121488017 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs757254917
rs757254917
FGFR1
1 1.000 0.120 8 38415967 missense variant T/A;G snv 4.0E-06; 1.2E-04 0.010 1.000 1 2000 2000
dbSNP: rs765658636
rs765658636
FGFR2
1 1.000 0.120 10 121498530 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs77722678
rs77722678
FGFR3
1 1.000 0.120 4 1805643 missense variant A/C;G snv 4.0E-06 0.710 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: rs587778769
rs587778769
FGFR3
1 1.000 0.120 4 1799488 missense variant A/T snv 0.700 0
dbSNP: rs587778773
rs587778773
FGFR3
1 1.000 0.120 4 1801886 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs587778775
rs587778775
FGFR3
1 1.000 0.120 4 1803785 missense variant G/A;T snv 0.700 0
dbSNP: rs587778776
rs587778776
FGFR3
1 1.000 0.120 4 1804396 missense variant T/A;G snv 1.2E-05 0.700 0