DNAH9, dynein axonemal heavy chain 9, 1770

N. diseases: 22; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140721719
rs140721719 		1.000 17 11699878 missense variant G/A;T snv 1.6E-05
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		0.700 1.000 2 2018 2018
dbSNP: rs1267599270
rs1267599270 		1.000 17 11933949 missense variant G/A snv 7.0E-06
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		0.700 0
dbSNP: rs138874996
rs138874996 		1.000 0.080 17 11886844 missense variant C/A;T snv 5.5E-04; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs375908701
rs375908701 		1.000 17 11822481 missense variant G/A snv 6.4E-05 4.9E-05
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		0.700 0