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: 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: rs1380576
rs1380576
0.763 0.240 1 204519150 intron variant G/C snv 0.57
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018