SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
Disease: Renal carnitine transport defect ×
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: rs1157198543
rs1157198543 		1.000 0.160 5 132393745 missense variant T/C snv 7.0E-06
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs139203363
rs139203363 		1.000 0.160 5 132370006 missense variant G/A snv 7.1E-04 6.5E-04
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs1408166345
rs1408166345 		1.000 0.160 5 132392529 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs145068530
rs145068530 		1.000 0.160 5 132384178 missense variant A/G snv 7.6E-05 2.7E-04
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs1457258524
rs1457258524 		1.000 0.160 5 132385375 missense variant G/C snv 4.0E-06
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs150544263
rs150544263 		1.000 0.160 5 132389012 missense variant T/A;C snv 4.0E-06; 5.2E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs200699819
rs200699819 		1.000 0.160 5 132385436 missense variant G/A snv 9.9E-05 7.0E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs201262157
rs201262157 		1.000 0.160 5 132385466 missense variant C/G;T snv 3.2E-05; 3.2E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs386134211
rs386134211 		1.000 0.160 5 132387049 missense variant G/T snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs386134214
rs386134214 		1.000 0.160 5 132390725 missense variant T/C snv 4.0E-06
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs386134219
rs386134219 		1.000 0.160 5 132392507 missense variant G/A;T snv 8.0E-06
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs61731073
rs61731073 		1.000 0.160 5 132390709 missense variant T/A snv 4.0E-06 1.4E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs72552723
rs72552723 		1.000 0.160 5 132370028 missense variant G/A;C snv 4.0E-06
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs72552724
rs72552724 		1.000 0.160 5 132370055 missense variant G/T snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs72552728
rs72552728 		1.000 0.160 5 132385400 missense variant G/T snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs72552729
rs72552729 		1.000 0.160 5 132387047 missense variant T/A;C snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs72552730
rs72552730 		1.000 0.160 5 132387102 missense variant C/A;G snv
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs72552733
rs72552733 		1.000 0.160 5 132392501 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs756650860
rs756650860 		1.000 0.160 5 132385363 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs757711838
rs757711838 		1.000 0.160 5 132370196 missense variant G/C snv 9.9E-06 1.4E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs781721860
rs781721860 		1.000 0.160 5 132384172 missense variant G/A snv 4.4E-05 2.8E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 18 1999 2017
dbSNP: rs114269482
rs114269482 		1.000 0.160 5 132385370 missense variant C/T snv 9.1E-05 1.8E-04
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 8 2005 2017
dbSNP: rs121908886
rs121908886 		1.000 0.160 5 132387044 stop gained C/T snv 4.0E-05 4.9E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 8 1999 2017
dbSNP: rs377767444
rs377767444 		1.000 0.160 5 132370034 inframe deletion TTC/- delins
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 1990 2017
dbSNP: rs377767449
rs377767449 		1.000 0.160 5 132370222 frameshift variant -/GGCTCGCCACC delins
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 6 2002 2017