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: 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
dbSNP: rs1057519037
rs1057519037
FGFR2
2 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 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: 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: rs1554570813
rs1554570813
FGFR1
2 0.925 0.200 8 38429826 stop gained G/A snv 0.700 1.000 1 2016 2016