PRDM1, PR/SET domain 1, 639

N. diseases: 126; N. variants: 8
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: rs6911490
rs6911490 		1.000 0.040 6 106074152 intron variant T/C snv 0.86
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841 		0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717 		0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717 		0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717 		0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717 		0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717 		0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717 		0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1010273
rs1010273 		0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02
CUI: C1333977
Disease: Hepatitis B Virus-Related Hepatocellular Carcinoma
Hepatitis B Virus-Related Hepatocellular Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1010273
rs1010273 		0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs1010273
rs1010273 		0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1312391542
rs1312391542 		0.925 0.120 6 106104897 missense variant G/A;T snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1312391542
rs1312391542 		0.925 0.120 6 106104897 missense variant G/A;T snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1372169495
rs1372169495 		1.000 6 106086585 missense variant G/A;C snv 6.3E-06; 6.3E-06
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs2185379
rs2185379 		1.000 0.080 6 106088378 missense variant G/A snv 3.8E-02 4.5E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs757085537
rs757085537 		0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		0.010 1.000 1 2014 2014
dbSNP: rs757085537
rs757085537 		0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06
CUI: C1709656
Disease: Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 		0.010 1.000 1 2017 2017
dbSNP: rs757085537
rs757085537 		0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
Malignant lymphoma - lymphoplasmacytic 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs757085537
rs757085537 		0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs757085537
rs757085537 		0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014