Gene: DNAAF1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139519641
rs139519641
DNAAF1
1 16 84174723 splice donor variant G/A snv 4.2E-04 4.0E-04 0.700 1.000 2 2009 2009
dbSNP: rs267607225
rs267607225
DNAAF1
2 1.000 0.120 16 84159744 stop gained C/T snv 1.6E-05 0.700 1.000 1 2009 2009
dbSNP: rs745495583
rs745495583
DNAAF1
1 16 84170124 frameshift variant GGAGATGGAGAGCCAGAGGGGAC/- delins 2.4E-05 5.6E-05 0.700 1.000 1 2009 2009
dbSNP: rs1060502829
rs1060502829
DNAAF1
1 16 84149072 stop gained C/T snv 0.700 0
dbSNP: rs1233603821
rs1233603821
DNAAF1
1 16 84165849 frameshift variant AGGGAGC/- delins 8.0E-06 0.700 0
dbSNP: rs1555519999
rs1555519999
DNAAF1
1 16 84149027 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555526915
rs1555526915
DNAAF1
1 16 84176045 frameshift variant -/A delins 0.700 0
dbSNP: rs1555527001
rs1555527001
DNAAF1
1 16 84176171 frameshift variant T/- del 0.700 0
dbSNP: rs267607227
rs267607227
DNAAF1
3 0.925 0.160 16 84154748 missense variant T/C;G snv 0.700 0
dbSNP: rs748869874
rs748869874
DNAAF1
1 16 84176140 stop gained C/G;T snv 8.0E-06; 2.8E-05 0.700 0
dbSNP: rs758650222
rs758650222
DNAAF1
1 16 84155723 frameshift variant A/- del 7.0E-06 0.700 0
dbSNP: rs761851970
rs761851970
DNAAF1
1 16 84155702 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs762843285
rs762843285
DNAAF1
1 16 84165931 frameshift variant A/- del 1.6E-05 1.4E-05 0.700 0
dbSNP: rs764066045
rs764066045
DNAAF1
1 16 84174667 splice acceptor variant A/C snv 4.8E-05 0.700 0
dbSNP: rs786205052
rs786205052
DNAAF1
2 1.000 0.120 16 84154730 frameshift variant -/G delins 0.700 0