Disease: 2-3 toe syndactyly
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 5
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 5