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.
Abnormality of the genital system
CUI: C0744356
Disease: Abnormality of the genital system
4 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
CORNELIA DE LANGE SYNDROME 4
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
11 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Prominent digit pad
CUI: C4023424
Disease: Prominent digit pad
3 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019