Source: CLINVAR ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017