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: rs878854446
rs878854446
DNAH11
1 7 21748679 stop gained C/G;T snv 0.700 0
dbSNP: rs886039340
rs886039340
DNAH11
1 7 21687528 splice donor variant G/C snv 0.700 1.000 3 2008 2012
dbSNP: rs972753865
rs972753865
DNAH11
1 7 21808051 splice donor variant T/C snv 1.1E-05 1.4E-05 0.700 0