Disease: Clinodactyly of the 5th finger
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7