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.
Congenital hemivertebra
CUI: C0265677
Disease: Congenital hemivertebra
4 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0