Gene: FGFR3 ×
Source: BEFREE ×
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: rs28931614
rs28931614
FGFR3
9 0.672 0.520 4 1804392 missense variant G/A;C snv 0.900 0.981 50 1994 2020
dbSNP: rs75790268
rs75790268
FGFR3
2 0.925 0.120 4 1804377 missense variant G/T snv 0.850 1.000 5 1994 2012
dbSNP: rs28933068
rs28933068
FGFR3
16 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.750 1.000 5 1998 2020
dbSNP: rs1211533350
rs1211533350
FGFR3
5 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.030 1.000 3 1998 2004
dbSNP: rs121913479
rs121913479
FGFR3
5 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs28931615
rs28931615
FGFR3
11 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 1.000 1 2001 2001