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: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1555525279
rs1555525279
TP53
1.000 0.120 17 7673795 missense variant A/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567555667
rs1567555667
TP53
1.000 0.120 17 7676031 missense variant A/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs193920789
rs193920789
TP53
1.000 0.120 17 7674249 missense variant A/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs763746485
rs763746485
TP53
1.000 0.120 17 7674974 splice region variant A/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs876659076
rs876659076
TP53
17 7674179 splice donor variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587781589
rs587781589
TP53
1.000 0.120 17 7674268 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2000 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2003 2003
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;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: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016