rs1555639076, BPTF

N. diseases: 16
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.
Abnormality of pain sensation
CUI: C4023691
Disease: Abnormality of pain sensation
3 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Headache
CUI: C0018681
Disease: Headache
75 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Large nose
CUI: C0426415
Disease: Large nose
7 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Myopia
CUI: C0027092
Disease: Myopia
167 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Small hand
CUI: C0575802
Disease: Small hand
31 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017