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: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2003 2015
dbSNP: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010