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: 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: rs1057519044
rs1057519044
FGFR2
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs1057519047
rs1057519047
FGFR2
1 1.000 0.080 10 121488055 missense variant T/C;G snv 0.800 0
dbSNP: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121918503
rs121918503
FGFR2
1 1.000 0.080 10 121520098 inframe deletion GTC/- delins 0.700 0
dbSNP: rs1434545235
rs1434545235
FGFR2
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1554927408
rs1554927408
FGFR2
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
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