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: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1850048
Disease: Absent proximal finger flexion creases
Absent proximal finger flexion creases 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1856644
Disease: Absent/hypoplastic coccyx
Absent/hypoplastic coccyx 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0004096
Disease: Asthma
Asthma 		0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0006325
Disease: Bruxism
Bruxism 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C0009676
Disease: Confusion
Confusion 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 1.000 1 2016 2017
dbSNP: rs1057519632
rs1057519632
CDK13
1.000 7 39999467 missense variant G/A snv
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 0
dbSNP: rs1057519633
rs1057519633
CDK13
1.000 7 39999458 missense variant G/C snv
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 0