rs759317757, OTUD6B

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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
CUI: C4479520
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
5 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0