DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
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: rs16889038
rs16889038 		6 24306159 intron variant T/G snv 0.11
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.800 1.000 1 2012 2012
dbSNP: rs1042640142
rs1042640142 		1.000 6 24357700 missense variant C/G;T snv
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.800 0
dbSNP: rs794729665
rs794729665 		0.925 0.120 6 24178385 missense variant T/G snv
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs3765502
rs3765502 		6 24353817 intron variant T/C snv 9.7E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs10806984
rs10806984 		6 24181603 intron variant A/C snv 0.35
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs12189861
rs12189861 		1.000 0.040 6 24274224 intron variant G/A snv 0.14
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs794729665
rs794729665 		0.925 0.120 6 24178385 missense variant T/G snv
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs904944428
rs904944428 		0.925 0.120 6 24301743 frameshift variant T/-;TT delins
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 1.000 1 2016 2016
dbSNP: rs904944428
rs904944428 		0.925 0.120 6 24301743 frameshift variant T/-;TT delins
CUI: C1857750
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66
DEAFNESS, AUTOSOMAL RECESSIVE 66 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1050411259
rs1050411259 		1.000 6 24278081 stop gained A/T snv 8.0E-06
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs1554117600
rs1554117600 		1.000 6 24301715 splice acceptor variant TGAACAGCCCCGCTCCTCAGAGTGATTTTTTCTGTGACCATTTGTAGTACATGATCCCACTGATTCAAGGTTTTTCTGGGGATAAGGAGGCGAGAAGCTGGGTTTATGAGGTCTCCATTTGCAATCAAGCTG/- delins
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs730880299
rs730880299 		0.925 6 24290987 stop gained T/A snv
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs730880299
rs730880299 		0.925 6 24290987 stop gained T/A snv
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs757704417
rs757704417 		0.925 6 24357627 frameshift variant AC/- delins 1.6E-05 7.0E-06
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs757704417
rs757704417 		0.925 6 24357627 frameshift variant AC/- delins 1.6E-05 7.0E-06
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.700 0
dbSNP: rs760040426
rs760040426 		1.000 6 24302046 splice acceptor variant T/C snv 2.5E-05
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs909339162
rs909339162 		1.000 6 24278202 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C4015542
Disease: NEPHRONOPHTHISIS 19
NEPHRONOPHTHISIS 19 		0.700 0
dbSNP: rs938050921
rs938050921 		0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 13 2006 2020
dbSNP: rs2274305
rs2274305 		0.925 0.120 6 24290975 missense variant T/C snv 0.65 0.51
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2016 2017
dbSNP: rs2274305
rs2274305 		0.925 0.120 6 24290975 missense variant T/C snv 0.65 0.51
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4599626
rs4599626 		0.925 0.120 6 24341129 intron variant C/A snv 0.33
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4599626
rs4599626 		0.925 0.120 6 24341129 intron variant C/A snv 0.33
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs6456593
rs6456593 		0.925 0.120 6 24174101 3 prime UTR variant C/G snv 0.34
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs6456593
rs6456593 		0.925 0.120 6 24174101 3 prime UTR variant C/G snv 0.34
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs6922023
rs6922023 		0.925 0.120 6 24347889 intron variant G/A snv 0.22
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017