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: rs78311289
rs78311289
FGFR3
11 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.890 0.909 3 1995 2018
dbSNP: rs121913105
rs121913105
FGFR3
17 0.653 0.600 4 1806163 missense variant A/C;T snv 0.730 0.667 0 1999 2018
dbSNP: rs121913116
rs121913116
FGFR3
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs121913101
rs121913101
FGFR3
2 0.882 0.080 4 1807260 stop lost T/A;C;G snv 0.700 0
dbSNP: rs121913103
rs121913103
FGFR3
2 0.925 0.080 4 1807262 stop gained A/C;G;T snv 0.700 0
dbSNP: rs121913479
rs121913479
FGFR3
6 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
35 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
FGFR3
23 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs121913484
rs121913484
FGFR3
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 0
dbSNP: rs121913485
rs121913485
FGFR3
9 0.716 0.400 4 1804372 missense variant A/G snv 0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
15 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
17 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs397515514
rs397515514
FGFR3
2 0.925 0.080 4 1807261 stop lost G/T snv 0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
30 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0