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: rs1060499663
rs1060499663
FGFR1
1 1.000 0.160 8 38416013 frameshift variant C/- delins 0.700 0
dbSNP: rs1085307879
rs1085307879
FGFR1
1 1.000 0.160 8 38414183 missense variant T/C snv 0.700 0
dbSNP: rs1131691929
rs1131691929
FGFR1
1 1.000 0.160 8 38424628 missense variant C/T snv 0.700 0
dbSNP: rs121909636
rs121909636
FGFR1
7 0.827 0.240 8 38414569 stop gained G/A snv 0.700 0
dbSNP: rs121909639
rs121909639
FGFR1
2 0.925 0.160 8 38415899 stop gained G/A snv 0.700 0
dbSNP: rs121909643
rs121909643
FGFR1
1 1.000 0.160 8 38413918 missense variant C/A;G snv 0.700 0
dbSNP: rs727505369
rs727505369
FGFR1
3 0.925 0.160 8 38424624 missense variant T/C snv 0.700 0
dbSNP: rs727505373
rs727505373
FGFR1
3 0.925 0.160 8 38429744 missense variant T/C snv 0.700 0
dbSNP: rs727505376
rs727505376
FGFR1
2 0.925 0.160 8 38414279 missense variant C/G;T snv 0.700 0
dbSNP: rs747842199
rs747842199
FGFR1
1 1.000 0.160 8 38429694 missense variant C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs863223331
rs863223331
FGFR1
1 1.000 0.160 8 38427977 missense variant G/A snv 0.700 0
dbSNP: rs876661334
rs876661334
FGFR1
2 0.925 0.240 8 38414778 splice donor variant C/T snv 0.700 0
dbSNP: rs121909627
rs121909627
FGFR1
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.700 1.000 10 1994 2014
dbSNP: rs1554570706
rs1554570706
FGFR1
2 0.925 0.200 8 38429808 missense variant G/A snv 0.800 1.000 16 2003 2017
dbSNP: rs121909628
rs121909628
FGFR1
3 0.925 0.160 8 38414892 stop gained G/A;C snv 0.800 1.000 15 2003 2015
dbSNP: rs121909629
rs121909629
FGFR1
3 0.882 0.200 8 38415905 missense variant C/T snv 0.700 1.000 15 2003 2015
dbSNP: rs121909630
rs121909630
FGFR1
2 0.925 0.160 8 38428043 missense variant C/A snv 0.700 1.000 15 2003 2015
dbSNP: rs121909635
rs121909635
FGFR1
6 0.827 0.240 8 38426158 missense variant C/T snv 0.800 1.000 15 2003 2015
dbSNP: rs121909637
rs121909637
FGFR1
3 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.800 1.000 15 2003 2015
dbSNP: rs121909638
rs121909638
FGFR1
3 0.882 0.280 8 38421853 missense variant A/G snv 0.700 1.000 15 2003 2015
dbSNP: rs121909640
rs121909640
FGFR1
2 0.925 0.160 8 38429898 missense variant C/T snv 0.800 1.000 15 2003 2015
dbSNP: rs121909641
rs121909641
FGFR1
9 0.763 0.520 8 38419720 missense variant G/A snv 0.800 1.000 15 2003 2015
dbSNP: rs121909642
rs121909642
FGFR1
2 0.925 0.160 8 38414174 missense variant G/A snv 0.700 1.000 15 2003 2015
dbSNP: rs121909644
rs121909644
FGFR1
2 0.925 0.160 8 38413795 missense variant C/A;T snv 0.800 1.000 15 2003 2015
dbSNP: rs121909645
rs121909645
FGFR1
2 0.925 0.240 8 38424696 missense variant C/G;T snv 0.800 1.000 15 2003 2015