rs1554728529, NOTCH1

N. diseases: 3
Source: INFERRED ×
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
1.000 9 136508989 frameshift variant A/- del 0.700 1.000 19 1999 2019
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
1.000 9 136508989 frameshift variant A/- del 0.700 1.000 19 1999 2019
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
1.000 9 136508989 frameshift variant A/- del 0.700 1.000 19 1999 2019