rs1569525894, SLC9A6

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.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Chorea
CUI: C0008489
Disease: Chorea
20 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Focal white matter lesions
CUI: C4024946
Disease: Focal white matter lesions
2 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Impaired use of nonverbal behaviors
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
5 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0