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 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Hypotension
CUI: C0020649
Disease: Hypotension
2 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
7 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0