Disease: 2-3 toe syndactyly
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17