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.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Abnormal muscle tone
CUI: C0852413
Disease: Abnormal muscle tone
7 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Chorea
CUI: C0008489
Disease: Chorea
20 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Congenital torticollis
CUI: C0079352
Disease: Congenital torticollis
6 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
13 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Leg Length Inequality
CUI: C0023221
Disease: Leg Length Inequality
6 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Parkinsonism with favorable response to dopaminergic medication
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
2 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
3 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0