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: rs121913387
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 4 1994 2014
dbSNP: rs121913387
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913387
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2003 2003
dbSNP: rs121913387
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2006 2006
dbSNP: rs121913387
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2006 2006
dbSNP: rs121913387
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2006 2006