rs1554333853, CDK13

N. diseases: 54
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
8 0.689 0.320 7 40046006 missense variant A/G snv 0.800 1.000 2 2016 2017
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Absent proximal finger flexion creases
CUI: C1850048
Disease: Absent proximal finger flexion creases
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Absent/hypoplastic coccyx
CUI: C1856644
Disease: Absent/hypoplastic coccyx
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Asphyxia Neonatorum
CUI: C0004045
Disease: Asphyxia Neonatorum
5 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Brachyonychia
CUI: C0423808
Disease: Brachyonychia
2 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Contracture of tendo achilles
CUI: C0410264
Disease: Contracture of tendo achilles
6 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Duplicated collecting system
CUI: C1858565
Disease: Duplicated collecting system
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Flat face
CUI: C1853241
Disease: Flat face
7 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Focal white matter lesions
CUI: C4024946
Disease: Focal white matter lesions
2 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Hypertrophy of clitoris
CUI: C0156394
Disease: Hypertrophy of clitoris
2 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Hypoplastic coccygeal vertebrae
CUI: C2751480
Disease: Hypoplastic coccygeal vertebrae
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017