CCDC39, coiled-coil domain containing 39, 339829

N. diseases: 56; N. variants: 49
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: rs6782299
rs6782299 		0.925 0.080 3 180832914 intron variant G/T snv 0.80
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.800 1.000 1 2009 2009
dbSNP: rs756235547
rs756235547 		3 180659582 splice acceptor variant T/C snv 1.2E-04 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2011 2013
dbSNP: rs397515392
rs397515392 		1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2011 2013
dbSNP: rs587778822
rs587778822 		1.000 0.120 3 180651496 frameshift variant T/- delins 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2011 2014
dbSNP: rs773801386
rs773801386 		1.000 0.120 3 180654861 frameshift variant GT/- delins 4.2E-05
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
CILIARY DYSKINESIA, PRIMARY, 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2013 2014
dbSNP: rs1560079213
rs1560079213 		3 180616697 splice acceptor variant T/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2013
dbSNP: rs201780665
rs201780665 		3 180642072 stop gained G/A;T snv 7.6E-05; 8.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587778820
rs587778820 		1.000 0.120 3 180619334 frameshift variant T/- delins 2.6E-05 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2016
dbSNP: rs753580394
rs753580394 		3 180644119 splice donor variant C/T snv 6.8E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2013
dbSNP: rs773801386
rs773801386 		1.000 0.120 3 180654861 frameshift variant GT/- delins 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1990 2013
dbSNP: rs1007345781
rs1007345781 		3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10937044
rs10937044 		1.000 0.040 3 180707221 intron variant A/C snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11916345
rs11916345 		1.000 0.040 3 180866783 intron variant C/A snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12497997
rs12497997 		1.000 0.040 3 180691609 intron variant C/T snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13069244
rs13069244 		3 180723384 intron variant G/A snv 5.0E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs13069244
rs13069244 		3 180723384 intron variant G/A snv 5.0E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs13073010
rs13073010 		1.000 0.040 3 180706536 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1401974
rs1401974 		1.000 0.040 3 180854943 intron variant G/A snv 0.41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2037370
rs2037370 		1.000 0.040 3 180868697 intron variant G/C snv 0.48
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2338576
rs2338576 		1.000 0.040 3 180689410 intron variant A/G snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2338577
rs2338577 		1.000 0.040 3 180687698 intron variant C/T snv 9.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs577069249
rs577069249 		3 180650140 intron variant T/C snv 5.0E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6782299
rs6782299 		0.925 0.080 3 180832914 intron variant G/T snv 0.80
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7617511
rs7617511 		1.000 0.040 3 180694079 intron variant C/T snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7643631
rs7643631 		1.000 0.040 3 180861041 intron variant A/G snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017