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: rs551275210
rs551275210
DNAH11 ; CDCA7L
1 7 21901132 stop gained G/A;C;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs72657333
rs72657333
DNAH11
1 7 21687256 splice donor variant G/A snv 1.9E-05 1.4E-05 0.700 0
dbSNP: rs757013900
rs757013900
DNAH11
1 7 21635991 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs767595964
rs767595964
DNAH11
1 7 21698163 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs769637393
rs769637393
DNAH11 ; LOC105375183
1 7 21571866 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs771781357
rs771781357
DNAH11
1 7 21773945 frameshift variant -/A delins 1.4E-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: 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: rs797045085
rs797045085
DNAH11
2 1.000 0.160 7 21749750 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs878854435
rs878854435
DNAH11
1 7 21864542 stop gained T/A snv 0.700 0
dbSNP: rs878854436
rs878854436
DNAH11
1 7 21868996 splice region variant G/A snv 0.700 0
dbSNP: rs878854441
rs878854441
DNAH11
1 7 21600797 stop gained G/A snv 0.700 0
dbSNP: rs878854444
rs878854444
DNAH11
1 7 21639066 splice donor variant G/A snv 7.0E-06 0.700 0
dbSNP: rs878854445
rs878854445
DNAH11
1 7 21720729 frameshift variant AT/- delins 0.700 0
dbSNP: rs878854446
rs878854446
DNAH11
1 7 21748679 stop gained C/G;T snv 0.700 0
dbSNP: rs972753865
rs972753865
DNAH11
1 7 21808051 splice donor variant T/C snv 1.1E-05 1.4E-05 0.700 0
dbSNP: rs1175443221
rs1175443221
DNAH11
1 7 21862024 splice donor variant G/A snv 0.700 1.000 3 2008 2012
dbSNP: rs1554281038
rs1554281038
DNAH11
1 7 21787584 splice donor variant G/A snv 0.700 1.000 3 2008 2012
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: rs886039340
rs886039340
DNAH11
1 7 21687528 splice donor variant G/C snv 0.700 1.000 3 2008 2012
dbSNP: rs200693106
rs200693106
DNAH11
1 7 21702773 stop gained C/A;T snv 3.6E-05 0.700 1.000 2 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: rs532007878
rs532007878
DNAH11
1 7 21616294 splice donor variant C/A;T snv 1.3E-04 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