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: rs121913343
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 1.000 2 2016 2018
dbSNP: rs121913343
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.710 1.000 2 2014 2016
dbSNP: rs17849781
rs17849781
TP53
0.701 0.480 17 7673788 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 2 2014 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.710 0.500 2 2005 2016
dbSNP: rs28934874
rs28934874
TP53
0.695 0.480 17 7675161 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 2 2014 2016
dbSNP: rs35850753
rs35850753
TP53
0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.710 1.000 2 2014 2017
dbSNP: rs375874539
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.710 0.500 2 2009 2016
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.710 1.000 2 2008 2016
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 1.000 2 2009 2016
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 2 2016 2016
dbSNP: rs876660754
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 2 2016 2017
dbSNP: rs886039484
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 2 2012 2016
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.710 1.000 1 2018 2018
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 1 2013 2013
dbSNP: rs121912667
rs121912667
TP53
0.851 0.200 17 7673766 missense variant T/A snv
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.710 1.000 1 2008 2008
dbSNP: rs121913343
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 1 2011 2011
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.710 < 0.001 1 2017 2017
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.710 1.000 1 2005 2005
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 1 1998 1998
dbSNP: rs876659384
rs876659384
TP53
0.851 0.240 17 7673552 stop gained C/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.710 1.000 1 2004 2004
dbSNP: rs876660754
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 1 2017 2017
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 30 1990 2017
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: 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: rs121912653
rs121912653
TP53
0.925 0.120 17 7674208 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 18 1990 2017