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: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.810 1.000 22 1990 2014
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 1997 2015
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2009 2009
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 1998 1998
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1998 1998
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 1998 1998
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 1.000 1 2009 2009