Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 4
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1