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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
39 1.000 21 37490273 stop gained C/T snv 0.700 1.000 3 2015 2017
Absent or delayed speech development
CUI: C3276611
Disease: Absent or delayed speech development
9 1.000 21 37490273 stop gained C/T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 1.000 21 37490273 stop gained C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 21 37490273 stop gained C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 21 37490273 stop gained C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 21 37490273 stop gained C/T snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 1.000 21 37490273 stop gained C/T snv 0.700 0