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: 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: 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: 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: 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: 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: 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: 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: 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