SLC22A2, solute carrier family 22 member 2, 6582

N. diseases: 98; N. variants: 16
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: rs2279463
rs2279463 		1.000 0.080 6 160247357 intron variant A/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 5 2016 2019
dbSNP: rs2279463
rs2279463 		1.000 0.080 6 160247357 intron variant A/G;T snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 4 2010 2019
dbSNP: rs2279463
rs2279463 		1.000 0.080 6 160247357 intron variant A/G;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2010 2012
dbSNP: rs316009
rs316009 		6 160254732 intron variant T/C;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2016
dbSNP: rs316020
rs316020 		6 160248049 intron variant A/G snv 0.89
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2018 2019
dbSNP: rs12207180
rs12207180 		1.000 0.080 6 160212075 intron variant T/A;G snv 0.12
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12207180
rs12207180 		1.000 0.080 6 160212075 intron variant T/A;G snv 0.12
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs143520616
rs143520616 		6 160210138 intron variant G/T snv 1.4E-02
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs145590578
rs145590578 		1.000 0.040 6 160236104 intron variant GTT/- delins 9.8E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs145590578
rs145590578 		1.000 0.040 6 160236104 intron variant GTT/- delins 9.8E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs145590578
rs145590578 		1.000 0.040 6 160236104 intron variant GTT/- delins 9.8E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs147010904
rs147010904 		6 160204267 intron variant C/T snv 6.5E-03
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2279463
rs2279463 		1.000 0.080 6 160247357 intron variant A/G;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 2010 2010
dbSNP: rs3101823
rs3101823 		6 160240136 intron variant T/G snv 9.8E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs3127573
rs3127573 		6 160260361 5 prime UTR variant A/G snv 0.12
CUI: C0428279
Disease: Finding of creatinine level
Finding of creatinine level 		0.700 1.000 1 2010 2010
dbSNP: rs3127573
rs3127573 		6 160260361 5 prime UTR variant A/G snv 0.12
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2010 2010
dbSNP: rs316009
rs316009 		6 160254732 intron variant T/C;G snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs316020
rs316020 		6 160248049 intron variant A/G snv 0.89
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs316029
rs316029 		6 160265636 intron variant T/C snv 0.89
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs515140
rs515140 		6 160227235 intron variant T/G snv 0.72
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs316019
rs316019 		0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2010 2015
dbSNP: rs145450955
rs145450955 		1.000 0.080 6 160250619 missense variant G/A snv 3.4E-04 9.8E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs316019
rs316019 		0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs316019
rs316019 		0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs316019
rs316019 		0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010