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: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2008 2009
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2008 2009
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2008 2009
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		0.010 1.000 1 2008 2008
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 6 2003 2016
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		0.010 1.000 1 2002 2002
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0