Source: CLINVAR

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: 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: 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: rs1555526004
rs1555526004
TP53
17 7675079 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1997 1999
dbSNP: rs730882007
rs730882007
TP53
1.000 0.120 17 7674212 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2007 2011
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016