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: rs1554570813
rs1554570813
FGFR1
2 0.925 0.200 8 38429826 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519037
rs1057519037
FGFR2
2 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 0.700 0
dbSNP: rs1057519041
rs1057519041
FGFR2
2 0.925 0.160 10 121517465 splice acceptor variant T/C 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: rs121918510
rs121918510
FGFR2
1 1.000 0.080 10 121517441 missense variant T/G snv 0.810 1.000 14 1995 2007
dbSNP: rs1554928884
rs1554928884
FGFR2
1 1.000 0.080 10 121517384 missense variant T/C snv 0.710 1.000 14 1995 2007
dbSNP: rs1358919643
rs1358919643
FGFR2
1 1.000 0.080 10 121517463 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 1995 1998
dbSNP: rs1057519047
rs1057519047
FGFR2
1 1.000 0.080 10 121488055 missense variant T/C;G snv 0.800 0
dbSNP: rs121918503
rs121918503
FGFR2
1 1.000 0.080 10 121520098 inframe deletion GTC/- delins 0.700 0
dbSNP: rs879253719
rs879253719
FGFR2
1 1.000 0.080 10 121517464 splice acceptor variant C/T snv 0.700 0
dbSNP: rs886037837
rs886037837
FGFR2
1 1.000 0.080 10 121520037 inframe deletion CGTGCTTGATCCACTGGA/- delins 0.700 0