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: rs879253719
rs879253719
FGFR2
1 1.000 0.080 10 121517464 splice acceptor variant C/T snv 0.700 0
dbSNP: rs879253721
rs879253721
FGFR2
2 0.925 0.080 10 121517316 splice region variant T/C snv 0.700 0
dbSNP: rs886037837
rs886037837
FGFR2
1 1.000 0.080 10 121520037 inframe deletion CGTGCTTGATCCACTGGA/- delins 0.700 0
dbSNP: rs121909627
rs121909627
FGFR1
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.850 1.000 11 1994 2014
dbSNP: rs1554570706
rs1554570706
FGFR1
2 0.925 0.200 8 38429808 missense variant G/A snv 0.700 1.000 2 2006 2017
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: rs1554570813
rs1554570813
FGFR1
2 0.925 0.200 8 38429826 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs746082633
rs746082633
FGFR1
5 0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs121909641
rs121909641
FGFR1
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2004 2004