Disease: Byzanthine arch palate
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12