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: rs771781357
rs771781357
DNAH11
1 7 21773945 frameshift variant -/A delins 1.4E-05 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: rs1554291973
rs1554291973
DNAH11
1 7 21880700 splice acceptor variant A/G snv 0.700 0
dbSNP: rs769637393
rs769637393
DNAH11 ; LOC105375183
1 7 21571866 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1554282583
rs1554282583
DNAH11
1 7 21801158 stop gained A/T snv 0.700 0
dbSNP: rs878854445
rs878854445
DNAH11
1 7 21720729 frameshift variant AT/- delins 0.700 0
dbSNP: rs1554292398
rs1554292398
DNAH11
1 7 21884369 frameshift variant C/- del 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: rs200693106
rs200693106
DNAH11
1 7 21702773 stop gained C/A;T snv 3.6E-05 0.700 1.000 2 2012 2015
dbSNP: rs532007878
rs532007878
DNAH11
1 7 21616294 splice donor variant C/A;T snv 1.3E-04 0.700 1.000 1 2012 2012
dbSNP: rs757784023
rs757784023
DNAH11
1 7 21900000 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs775720394
rs775720394
DNAH11
2 1.000 0.160 7 21899355 stop gained C/A;T snv 1.6E-05; 1.2E-05 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: rs202236144
rs202236144
DNAH11
1 7 21725823 stop gained C/G;T snv 3.3E-05 6.3E-05 0.700 0
dbSNP: rs773498002
rs773498002
DNAH11
1 7 21707816 stop gained C/G;T snv 4.3E-05; 1.7E-05 0.700 0
dbSNP: rs774903187
rs774903187
DNAH11
1 7 21899361 stop gained C/G;T snv 2.4E-05; 2.0E-05 0.700 0
dbSNP: rs878854446
rs878854446
DNAH11
1 7 21748679 stop gained C/G;T snv 0.700 0
dbSNP: rs368260932
rs368260932
DNAH11
2 1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05 0.700 1.000 3 2012 2015
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs72657316
rs72657316
DNAH11
1 7 21619178 stop gained C/T snv 2.8E-05 4.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs72657321
rs72657321
DNAH11
1 7 21620016 stop gained C/T snv 1.2E-05 2.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs72657393
rs72657393
DNAH11
1 7 21808041 stop gained C/T snv 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1060503063
rs1060503063
DNAH11
1 7 21842641 stop gained C/T snv 1.4E-05 0.700 0