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.
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Genu recurvatum
CUI: C0546964
Disease: Genu recurvatum
4 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Micronychia (disorder)
CUI: C0263523
Disease: Micronychia (disorder)
5 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0