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: rs587778569
rs587778569 		1.000 9 136505674 stop gained C/A;T snv 2.1E-05 4.2E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs746342893
rs746342893 		1.000 9 136505028 stop gained C/A;T snv 5.1E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015