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: 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: 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
dbSNP: rs397515445
rs397515445
FGFR1
7 0.807 0.280 8 38414263 missense variant T/C snv 0.700 1.000 15 2003 2015
dbSNP: rs397515446
rs397515446
FGFR1
2 0.925 0.160 8 38414599 missense variant C/T snv 0.700 1.000 15 2003 2015
dbSNP: rs886037634
rs886037634
FGFR1
2 0.925 0.160 8 38421836 missense variant C/T snv 0.700 1.000 15 2003 2015
dbSNP: rs1554552774
rs1554552774
FGFR1
2 0.925 0.200 8 38418227 splice donor variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1554564353
rs1554564353
FGFR1
1 1.000 0.160 8 38426242 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554570813
rs1554570813
FGFR1
2 0.925 0.200 8 38429826 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1554594114
rs1554594114
FGFR1
1 1.000 0.160 8 38457441 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs515726220
rs515726220
GNRHR ; UBA6-AS1
1 1.000 0.160 4 67740625 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs515726225
rs515726225
FGFR1
2 1.000 0.160 8 38414254 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs606231409
rs606231409
ANOS1
3 0.925 0.160 X 8732036 start lost T/A;C snv 0.700 1.000 1 2013 2013
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