rs368313959, OTUD6B

N. diseases: 8
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.
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
5 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0