rs181109321, TTPA

N. diseases: 17
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.
Ataxia with vitamin E deficiency
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
32 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
7 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Hallux Valgus
CUI: C0018536
Disease: Hallux Valgus
6 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Weight decreased
CUI: C1262477
Disease: Weight decreased
3 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.010 1.000 1 1999 1999
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.010 1.000 1 1999 1999