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: 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: rs121918501
rs121918501
FGFR2
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.020 1.000 2 2006 2014
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: 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