Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553667072
FN1
0.882 0.200 2 215433372 missense variant A/G snv 3
rs1181638652
FN1
0.925 0.160 2 215430725 missense variant G/A;C snv 1.2E-05 7.0E-06 2
rs1553658926
FN1
0.925 0.160 2 215428246 missense variant A/C snv 2
rs1553659131
FN1
0.925 0.160 2 215428306 missense variant A/C snv 2
rs1553669703
FN1 ; LOC105373868
0.925 0.160 2 215434713 missense variant C/A snv 2