NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: ADAMS-OLIVER SYNDROME 5 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587781259
rs587781259 		0.925 0.120 9 136505409 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.800 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.800 1.000 1 2014 2014