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.
CARDIAC-UROGENITAL SYNDROME
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
7 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
Chordee
CUI: C0221182
Disease: Chordee
1 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
Hypoplastic Left Heart Syndrome
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
7 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0