rs1566823361, FGF14

N. diseases: 18
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.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Bifid uvula
CUI: C4551488
Disease: Bifid uvula
7 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Chronic lung disease
CUI: C0746102
Disease: Chronic lung disease
12 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Overfolding of the superior helices
CUI: C1865304
Disease: Overfolding of the superior helices
7 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Prominent supraorbital ridges
CUI: C1842060
Disease: Prominent supraorbital ridges
10 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Talipes valgus
CUI: C0152236
Disease: Talipes valgus
2 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0