Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3124599
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2017 2017
dbSNP: rs3124599
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs3124599
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2017 2017
dbSNP: rs3124599
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 2017 2017
dbSNP: rs3124599
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2017 2017