Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0702166
Disease: Acne
Acne 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0149514
Disease: Acute bronchitis
Acute bronchitis 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0004099
Disease: Asthma, Exercise-Induced
Asthma, Exercise-Induced 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0476254
Disease: Dyslexia
Dyslexia 		0.700 0