rs1569146993, TCF20

N. diseases: 5
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.
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0