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: rs121909641
rs121909641
FGFR1
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 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
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: rs121918505
rs121918505
FGFR2
5 0.851 0.080 10 121520119 missense variant A/G snv 0.710 1.000 1 2001 2001
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: rs374608214
rs374608214
FGFR2
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
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
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: 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: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 0.800 1.000 13 1995 2007
dbSNP: rs121918495
rs121918495
FGFR2
2 0.925 0.080 10 121517382 missense variant T/G snv 0.800 1.000 13 1995 2007
dbSNP: rs121918506
rs121918506
FGFR2
3 0.882 0.080 10 121496701 missense variant T/C;G snv 0.800 1.000 13 1995 2007
dbSNP: rs121918502
rs121918502
FGFR2
9 0.790 0.160 10 121517351 missense variant G/C snv 0.820 1.000 15 1995 2014
dbSNP: rs776587763
rs776587763
FGFR2
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.820 1.000 15 1995 2014