Disease: EAR, PATELLA, SHORT STATURE SYNDROME
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs143141689
ORC1
0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 3
rs1437544261
DONSON
0.925 0.280 21 33581303 missense variant T/C snv 7.0E-06 2
rs374279734
ASPH
0.925 0.280 8 61653585 missense variant T/C snv 8.0E-06 4.2E-05 2
rs774052186
DONSON
0.925 0.280 21 33584744 missense variant G/A snv 2