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.
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Large fleshy ears
CUI: C3808403
Disease: Large fleshy ears
3 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Multiple suture craniosynostosis
CUI: C4021161
Disease: Multiple suture craniosynostosis
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Opisthotonus
CUI: C0151818
Disease: Opisthotonus
2 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Overfolding of the superior helices
CUI: C1865304
Disease: Overfolding of the superior helices
7 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Prominent coccyx
CUI: C4022490
Disease: Prominent coccyx
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Prominent fingertip pads
CUI: C1835807
Disease: Prominent fingertip pads
8 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Prominent glabella
CUI: C1860247
Disease: Prominent glabella
3 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
8 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Respiratory insufficiency due to muscle weakness
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
3 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Short nose
CUI: C1854114
Disease: Short nose
23 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Skin dimple
CUI: C0578531
Disease: Skin dimple
1 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017