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: rs1131691004
rs1131691004
TP53
1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2009 2009
dbSNP: rs1567553717
rs1567553717
TP53
1.000 0.120 17 7675151 inframe insertion -/GGGCGGGGGTGTGGAATC delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1555526250
rs1555526250
TP53
17 7675191 frameshift variant -/GGTCT delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1567548789
rs1567548789
TP53
1.000 0.120 17 7674159 coding sequence variant -/GGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATG delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567552753
rs1567552753
TP53
1.000 0.120 17 7675076 frameshift variant -/GGTGGGGGCAGCGCCTCAC delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526748
rs1555526748
TP53
1.000 0.120 17 7676212 frameshift variant -/T delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567551402
rs1567551402
TP53
1.000 0.120 17 7674887 frameshift variant -/T delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567556914
rs1567556914
TP53
1.000 0.120 17 7676215 frameshift variant -/T delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1555526495
rs1555526495
TP53
1.000 0.120 17 7676004 frameshift variant -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1131691018
rs1131691018
TP53
17 7676537 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555525537
rs1555525537
TP53
17 7674249 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555526593
rs1555526593
TP53
1.000 0.120 17 7676074 frameshift variant A/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526997
rs1555526997
TP53
1.000 0.120 17 7676550 frameshift variant A/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567548114
rs1567548114
TP53
1.000 0.120 17 7673810 frameshift variant A/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567550076
rs1567550076
TP53
1.000 0.120 17 7674288 frameshift variant A/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567552031
rs1567552031
TP53
1.000 0.120 17 7674949 frameshift variant A/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567554542
rs1567554542
TP53
1.000 0.120 17 7675236 frameshift variant A/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567556114
rs1567556114
TP53
1.000 0.120 17 7676091 frameshift variant A/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1064793929
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1555525279
rs1555525279
TP53
1.000 0.120 17 7673795 missense variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1994 2015
dbSNP: rs780442292
rs780442292
TP53
17 7675211 missense variant A/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2001 2008
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C 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