Disease: Thanatophoric dysplasia, type 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs121913101
FGFR3
0.882 0.080 4 1807260 stop lost T/A;C;G snv 3