rs730882242, DIAPH1

N. diseases: 7
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
CUI: C0014544
Disease: Epilepsy
339 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
4 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.807 0.280 5 141573518 stop gained G/A snv 0.020 1.000 2 2015 2016
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.807 0.280 5 141573518 stop gained G/A snv 0.010 1.000 1 2016 2016