KMT5A, lysine methyltransferase 5A, 387893

N. diseases: 49; N. variants: 4
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: rs28377694
rs28377694 		12 123399523 intron variant A/G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs28516750
rs28516750 		12 123383447 upstream gene variant G/A;C;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2016 2019
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 2018 2019
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1383461329
rs1383461329 		1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1383461329
rs1383461329 		1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs16917496
rs16917496 		0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017