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.
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
MENTAL RETARDATION, X-LINKED 3
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
7 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
35 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Methylmalonic aciduria
CUI: C1855119
Disease: Methylmalonic aciduria
4 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0