Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607227
DNAAF1
0.925 0.160 16 84154748 missense variant T/C;G snv 3
rs267607225
DNAAF1
1.000 0.120 16 84159744 stop gained C/T snv 1.6E-05 2
rs786205052
DNAAF1
1.000 0.120 16 84154730 frameshift variant -/G delins 2
rs1060502829
DNAAF1
16 84149072 stop gained C/T snv 1
rs1233603821
DNAAF1
16 84165849 frameshift variant AGGGAGC/- delins 8.0E-06 1
rs139519641
DNAAF1
16 84174723 splice donor variant G/A snv 4.2E-04 4.0E-04 1
rs1555519999
DNAAF1
16 84149027 frameshift variant AT/- delins 1
rs1555526915
DNAAF1
16 84176045 frameshift variant -/A delins 1
rs1555527001
DNAAF1
16 84176171 frameshift variant T/- del 1
rs745495583
DNAAF1
16 84170124 frameshift variant GGAGATGGAGAGCCAGAGGGGAC/- delins 2.4E-05 5.6E-05 1
rs748869874
DNAAF1
16 84176140 stop gained C/G;T snv 8.0E-06; 2.8E-05 1
rs758650222
DNAAF1
16 84155723 frameshift variant A/- del 7.0E-06 1
rs761851970
DNAAF1
16 84155702 missense variant C/G snv 8.0E-06 1
rs762843285
DNAAF1
16 84165931 frameshift variant A/- del 1.6E-05 1.4E-05 1
rs764066045
DNAAF1
16 84174667 splice acceptor variant A/C snv 4.8E-05 1