Source: CURATED

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: 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 2 2016 2017
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: 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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1853241
Disease: Flat face
Flat face 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1836038
Disease: Poor head control
Poor head control 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 1.000 1 2017 2017
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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		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: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0026034
Disease: Microstomia
Microstomia 		0.700 1.000 1 2017 2017
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: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.700 1.000 1 2017 2017