RPS6KB1, ribosomal protein S6 kinase B1, 6198

N. diseases: 169; 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: rs180515
rs180515 		1.000 0.080 17 59946914 3 prime UTR variant A/G snv 0.33
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.820 1.000 3 2011 2017
dbSNP: rs1051424
rs1051424 		0.925 0.080 17 59946963 3 prime UTR variant A/G snv 0.15
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1292034
rs1292034 		0.882 0.160 17 59912499 intron variant G/A snv 0.56
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1292034
rs1292034 		0.882 0.160 17 59912499 intron variant G/A snv 0.56
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1292034
rs1292034 		0.882 0.160 17 59912499 intron variant G/A snv 0.56
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1292035
rs1292035 		0.827 0.120 17 59912196 intron variant G/A snv 0.16
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1292035
rs1292035 		0.827 0.120 17 59912196 intron variant G/A snv 0.16
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1292035
rs1292035 		0.827 0.120 17 59912196 intron variant G/A snv 0.16
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1292035
rs1292035 		0.827 0.120 17 59912196 intron variant G/A snv 0.16
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1292035
rs1292035 		0.827 0.120 17 59912196 intron variant G/A snv 0.16
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1051424
rs1051424 		0.925 0.080 17 59946963 3 prime UTR variant A/G snv 0.15
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1051424
rs1051424 		0.925 0.080 17 59946963 3 prime UTR variant A/G snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017