Disease: Laryngomalacia
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
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12