rs886041125, ANKRD11

N. diseases: 12
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.
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
46 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 1.000 1 2016 2016
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
5 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Short palm
CUI: C1843108
Disease: Short palm
13 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
Unilateral Cryptorchidism
CUI: C0431664
Disease: Unilateral Cryptorchidism
5 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0