NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
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: rs1043994
rs1043994
0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3815188
rs3815188
0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779558160
rs779558160
0.851 0.160 19 15192258 synonymous variant A/G snv 9.1E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019