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 11 86277110 missense variant T/C snv 0.700 0
Advanced bone age
CUI: C0545053
Disease: Advanced bone age
4 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Anteriorly placed anus
CUI: C1838705
Disease: Anteriorly placed anus
5 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
COHEN-GIBSON SYNDROME
CUI: C4479654
Disease: COHEN-GIBSON SYNDROME
5 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Dysgenesis of corpus callosum
CUI: C0431369
Disease: Dysgenesis of corpus callosum
3 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Large hand
CUI: C0426870
Disease: Large hand
7 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Long foot
CUI: C0576225
Disease: Long foot
3 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
13 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Poor coordination
CUI: C0563243
Disease: Poor coordination
8 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
10 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0