rs1247665387, FA2H

N. diseases: 14
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.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
CUI: C3496228
Disease: Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
12 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
9 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
Syncope
CUI: C0039070
Disease: Syncope
45 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0