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: rs150844304
rs150844304
TP53BP1
15 43434427 intron variant A/C;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 3 2016 2019
dbSNP: rs150844304
rs150844304
TP53BP1
15 43434427 intron variant A/C;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019
dbSNP: rs150844304
rs150844304
TP53BP1
15 43434427 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs150844304
rs150844304
TP53BP1
15 43434427 intron variant A/C;G snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019
dbSNP: rs190543502
rs190543502
TP53BP1
0.925 0.040 15 43464986 intron variant T/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2017 2017
dbSNP: rs190543502
rs190543502
TP53BP1
0.925 0.040 15 43464986 intron variant T/A;C snv
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs200092283
rs200092283
TP53BP1 ; TUBGCP4
0.925 0.160 15 43403697 synonymous variant G/T snv 3.0E-04 3.3E-04
CUI: C3502492
Disease: Microcephaly with Chorioretinopathy, Autosomal Recessive
Microcephaly with Chorioretinopathy, Autosomal Recessive 		0.700 1.000 1 2015 2015
dbSNP: rs34212866
rs34212866
TP53BP1
15 43410766 intron variant A/G snv 0.19
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs575505283
rs575505283
TP53BP1
15 43411080 intron variant T/- delins 1.0E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs200092283
rs200092283
TP53BP1 ; TUBGCP4
0.925 0.160 15 43403697 synonymous variant G/T snv 3.0E-04 3.3E-04
CUI: C4225362
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		0.700 0
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2010 2011
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 1.000 3 2010 2011
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2010 2011
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2005 2006
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2005 2006
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2005 2011
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2011 2014
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2005 2011
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 < 0.001 2 2011 2014
dbSNP: rs1374309197
rs1374309197
TP53BP1
1.000 0.040 15 43492016 missense variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 1.000 1 2016 2016
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2006 2006
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2011 2011
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2011 2011
dbSNP: rs2602141
rs2602141
TP53BP1
0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014