Disease: Short 5th metacarpal
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29