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: rs1555526750
rs1555526750
TP53
1.000 0.120 17 7676213 frameshift variant TT/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs587776768
rs587776768
TP53
1.000 0.120 17 7674902 frameshift variant TT/- delins
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1567553658
rs1567553658
TP53
1.000 0.120 17 7675149 frameshift variant TGCC/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567541951
rs1567541951
TP53
1.000 0.120 17 7670658 stop gained TGAGTTCCA/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501205
rs1060501205
TP53
0.827 0.120 17 7673749 missense variant TG/GT mnv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2008 2008
dbSNP: rs1060501205
rs1060501205
TP53
0.827 0.120 17 7673749 missense variant TG/GT mnv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2008 2008
dbSNP: rs1060501205
rs1060501205
TP53
0.827 0.120 17 7673749 missense variant TG/GT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1060501205
rs1060501205
TP53
0.827 0.120 17 7673749 missense variant TG/GT mnv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2008 2008
dbSNP: rs1060501205
rs1060501205
TP53
0.827 0.120 17 7673749 missense variant TG/GT mnv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs1555525170
rs1555525170
TP53
1.000 0.120 17 7673763 frameshift variant TCCTCTGTGC/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs59758982
rs59758982
TP53
0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2009 2009
dbSNP: rs59758982
rs59758982
TP53
0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		0.010 1.000 1 2009 2009
dbSNP: rs876658144
rs876658144
TP53
17 7674866 inframe deletion TCATAGGGC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2000 2010
dbSNP: rs1567542043
rs1567542043
TP53
1.000 0.120 17 7670675 frameshift variant TCAGCTCT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567547661
rs1567547661
TP53
1.000 0.120 17 7673778 frameshift variant TC/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501212
rs1060501212
TP53
1.000 0.120 17 7674973 splice acceptor variant TAA/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 5 2011 2019
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 5 2011 2019
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 5 2011 2019
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0017638
Disease: Glioma
Glioma 		0.720 1.000 4 2012 2018
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.700 1.000 3 2018 2019
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2013 2016
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 3 2018 2019
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.710 1.000 3 2013 2018
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2013 2016