Source: BEFREE

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: rs1131691022
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs1321845532
rs1321845532
TP53
0.851 0.160 17 7670685 frameshift variant GG/A;G delins
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.875 16 2000 2018
dbSNP: rs1429743956
rs1429743956
TP53
0.882 0.080 17 7674906 stop gained T/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2006 2006
dbSNP: rs1625895
rs1625895
TP53
0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2007 2007
dbSNP: rs886039484
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013