MDM4, MDM4 regulator of p53, 4194

N. diseases: 265; N. variants: 9
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2290854
rs2290854 		0.925 0.080 1 204546897 intron variant A/G snv 0.65 0.57
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 1 2013 2013
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.730 0.800 5 2013 2018
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.730 0.750 4 2013 2018
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.720 1.000 4 2013 2018
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.720 1.000 3 2013 2015
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2016 2018
dbSNP: rs1046874
rs1046874 		1 204557932 3 prime UTR variant C/T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs4252707
rs4252707 		1.000 0.040 1 204539019 intron variant G/A snv 0.17
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4252707
rs4252707 		1.000 0.040 1 204539019 intron variant G/A snv 0.17
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2013 2016
dbSNP: rs4245739
rs4245739 		0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2013 2016
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs10900598
rs10900598 		0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598 		0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598 		0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10900598
rs10900598 		0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs116197192
rs116197192 		0.925 0.080 1 204538255 missense variant A/G snv 4.4E-04 4.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs116197192
rs116197192 		0.925 0.080 1 204538255 missense variant A/G snv 4.4E-04 4.7E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1380576
rs1380576 		0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012