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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2006 2006
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.010 < 0.001 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		0.010 < 0.001 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		0.010 < 0.001 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 1.000 1 2006 2006
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		0.010 1.000 1 2008 2008
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 < 0.001 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0030354
Disease: Papilloma
Papilloma 		0.010 1.000 1 2003 2003
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.010 < 0.001 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
MYELOPROLIFERATIVE SYNDROME, TRANSIENT 		0.010 1.000 1 2000 2000