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: rs397514495
rs397514495
TP53
0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 26 1990 2016
dbSNP: rs397514495
rs397514495
TP53
0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 14 1992 2015
dbSNP: rs397514495
rs397514495
TP53
0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1992 2017
dbSNP: rs397514495
rs397514495
TP53
0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 0