rs796052243, SPATA5

N. diseases: 54
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.
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
19 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 1.000 4 2015 2017
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Abnormality of mitochondrial metabolism
3 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Almond-shaped palpebral fissure
CUI: C4024780
Disease: Almond-shaped palpebral fissure
1 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Broad proximal phalanx of the hallux
1 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Congenital sensorineural hearing loss
17 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Gastroparesis
CUI: C0152020
Disease: Gastroparesis
7 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Hair whorls
CUI: C1185616
Disease: Hair whorls
5 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
Hyperactive patellar reflex
CUI: C0240116
Disease: Hyperactive patellar reflex
3 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0