Gene: DNAH11 ×
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: rs1060503041
rs1060503041
DNAH11
1 7 21748743 splice donor variant G/A snv 0.700 0
dbSNP: rs1060503063
rs1060503063
DNAH11
1 7 21842641 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1060503064
rs1060503064
DNAH11
1 7 21854418 missense variant T/C snv 0.700 0
dbSNP: rs1164659091
rs1164659091
DNAH11
1 7 21681585 stop gained G/T snv 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1212535211
rs1212535211
DNAH11 ; CDCA7L
1 7 21901191 frameshift variant CGAAGAG/- delins 0.700 0
dbSNP: rs121908854
rs121908854
DNAH11
2 1.000 7 21748602 stop gained C/A;G;T snv 1.2E-03; 4.7E-06 0.700 0
dbSNP: rs121908855
rs121908855
DNAH11
2 1.000 0.160 7 21880869 stop gained C/G snv 6.1E-05 2.8E-05 0.700 0
dbSNP: rs1261703349
rs1261703349
DNAH11 ; CDCA7L
1 7 21901024 stop gained C/G;T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs1275718084
rs1275718084
DNAH11
1 7 21702794 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1286036654
rs1286036654
DNAH11
1 7 21635937 stop gained C/T snv 0.700 0
dbSNP: rs1554269295
rs1554269295
DNAH11
1 7 21687485 frameshift variant TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG/- delins 0.700 0
dbSNP: rs1554282583
rs1554282583
DNAH11
1 7 21801158 stop gained A/T snv 0.700 0
dbSNP: rs1554291973
rs1554291973
DNAH11
1 7 21880700 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554292398
rs1554292398
DNAH11
1 7 21884369 frameshift variant C/- del 0.700 0
dbSNP: rs1554293484
rs1554293484
DNAH11
1 7 21894883 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1554294478
rs1554294478
DNAH11 ; CDCA7L
2 1.000 0.160 7 21901225 stop lost GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- delins 0.700 0
dbSNP: rs1554309352
rs1554309352
DNAH11
1 7 21558852 stop gained T/A snv 0.700 0
dbSNP: rs1554312483
rs1554312483
DNAH11 ; LOC105375183
1 7 21571974 splice donor variant G/A snv 0.700 0
dbSNP: rs1562521048
rs1562521048
DNAH11
1 7 21742142 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs1562590250
rs1562590250
DNAH11
1 7 21861937 frameshift variant -/GC delins 0.700 0
dbSNP: rs1562684798
rs1562684798
DNAH11
1 7 21591469 frameshift variant A/- del 0.700 0
dbSNP: rs202236144
rs202236144
DNAH11
1 7 21725823 stop gained C/G;T snv 3.3E-05 6.3E-05 0.700 0
dbSNP: rs373844629
rs373844629
DNAH11
2 1.000 0.160 7 21690844 stop gained C/T snv 8.1E-06 1.4E-05 0.700 0
dbSNP: rs374107286
rs374107286
DNAH11
1 7 21601514 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0