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: rs587780070
rs587780070
TP53
0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 27 1990 2017
dbSNP: rs587782596
rs587782596
TP53
0.807 0.200 17 7675071 missense variant G/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 27 1990 2017
dbSNP: rs28934574
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 26 1990 2017
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: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 25 1990 2017
dbSNP: rs587778720
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.810 1.000 24 1990 2015
dbSNP: rs121913343
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 23 1988 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.727 22 2006 2019
dbSNP: rs121912656
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 22 1990 2014
dbSNP: rs28934571
rs28934571
TP53
0.645 0.360 17 7674216 missense variant C/A;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.800 1.000 22 1994 2020
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: rs121912662
rs121912662
TP53
0.925 0.120 17 7670678 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 21 1990 2017
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.850 20 2000 2018
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 0.850 20 2000 2018
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 0.850 20 2000 2018
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.750 20 2006 2018
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 20 1990 2014
dbSNP: rs786201838
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 20 1990 2017
dbSNP: rs876660754
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 20 1990 2018
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.750 20 2006 2018
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1990 2017
dbSNP: rs121912663
rs121912663
TP53
0.925 0.120 17 7673745 missense variant T/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.710 1.000 19 1990 2017
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.710 1.000 19 2001 2017
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 19 1992 2016
dbSNP: rs28934874
rs28934874
TP53
0.695 0.480 17 7675161 missense variant G/A;C;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 19 1990 2014