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: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 9 1994 2016
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2001 2017
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 1996 1996
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017