rs1064797103, OTUD6B

N. diseases: 9
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.
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 0.827 0.280 8 91078597 missense variant A/G snv 0.800 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Narrow face
CUI: C1837463
Disease: Narrow face
6 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0