Source: CURATED ×
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: rs121913477
rs121913477
FGFR2
2 1.000 0.120 10 121515289 missense variant G/C;T snv 0.810 1.000 2 1996 2008
dbSNP: rs121913478
rs121913478
FGFR2
13 0.708 0.640 10 121515280 missense variant T/C snv 0.810 1.000 2 1996 2007
dbSNP: rs121918487
rs121918487
FGFR2
24 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 1.000 10 1995 2016
dbSNP: rs121918491
rs121918491
FGFR2
14 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 1.000 9 1994 2015
dbSNP: rs1057519037
rs1057519037
FGFR2
2 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 0.700 1.000 4 1995 2014
dbSNP: rs1057519043
rs1057519043
FGFR2
3 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.700 1.000 4 1996 2013
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057519044
rs1057519044
FGFR2
11 0.752 0.440 10 121517390 missense variant C/T snv 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
11 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs1554930637
rs1554930637
FGFR2
1 1.000 0.120 10 121519997 inframe deletion AGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGC/- delins 0.700 0
dbSNP: rs77543610
rs77543610
FGFR2
12 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs79184941
rs79184941
FGFR2
18 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0