Disease: Macrotia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15