SLC22A1, solute carrier family 22 member 1, 6580

N. diseases: 119; N. variants: 18
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: rs1564348
rs1564348 		6 160157828 intron variant T/C snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs1564348
rs1564348 		6 160157828 intron variant T/C snv 0.14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs4646284
rs4646284 		0.925 0.080 6 160160511 downstream gene variant -/G delins 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.710 1.000 1 2015 2015
dbSNP: rs12208357
rs12208357 		1.000 0.080 6 160122116 missense variant C/T snv 5.2E-02 4.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs1564348
rs1564348 		6 160157828 intron variant T/C snv 0.14
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs2297374
rs2297374 		1.000 0.080 6 160154953 intron variant C/T snv 0.37 0.42
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs651164
rs651164 		0.882 0.160 6 160160342 downstream gene variant A/G snv 0.69
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2009 2011
dbSNP: rs651164
rs651164 		0.882 0.160 6 160160342 downstream gene variant A/G snv 0.69
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2009 2011
dbSNP: rs112201728
rs112201728 		1.000 0.080 6 160130454 intron variant C/A;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs112201728
rs112201728 		1.000 0.080 6 160130454 intron variant C/A;T snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11753995
rs11753995 		6 160154334 intron variant G/A snv 0.12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11753995
rs11753995 		6 160154334 intron variant G/A snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12208357
rs12208357 		1.000 0.080 6 160122116 missense variant C/T snv 5.2E-02 4.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12208357
rs12208357 		1.000 0.080 6 160122116 missense variant C/T snv 5.2E-02 4.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2297374
rs2297374 		1.000 0.080 6 160154953 intron variant C/T snv 0.37 0.42
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3798173
rs3798173 		1.000 0.040 6 160134990 intron variant G/T snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs594709
rs594709 		1.000 0.040 6 160134722 intron variant G/A snv 0.64
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs62440901
rs62440901 		6 160148036 intron variant C/T snv 0.13
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs651164
rs651164 		0.882 0.160 6 160160342 downstream gene variant A/G snv 0.69
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs662138
rs662138 		6 160143444 intron variant C/G snv 0.14
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs662138
rs662138 		6 160143444 intron variant C/G snv 0.14
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs683369
rs683369 		0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs683369
rs683369 		0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9295125
rs9295125 		1.000 0.040 6 160157239 intron variant G/T snv 0.42
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs622342
rs622342 		0.882 0.280 6 160151834 intron variant C/A snv 0.70
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2014 2015