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: rs72552727
rs72552727 		1.000 0.160 5 132378380 stop gained G/A 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 6 1998 2010
dbSNP: rs386134212
rs386134212 		1.000 0.160 5 132387065 stop gained C/T snv 1.6E-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 4 2005 2014
dbSNP: rs1554085861
rs1554085861 		1.000 0.160 5 132369882 start lost GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- del
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 3 1999 2017
dbSNP: rs386134195
rs386134195 		1.000 0.160 5 132378439 frameshift variant TG/- 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 3 2005 2017
dbSNP: rs121908887
rs121908887 		1.000 0.160 5 132390838 stop gained -/A 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 2 1999 2002
dbSNP: rs121908892
rs121908892 		1.000 0.160 5 132369975 start lost G/A;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 2 2005 2006
dbSNP: rs386134201
rs386134201 		1.000 0.160 5 132385326 splice acceptor variant 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 2 2013 2017
dbSNP: rs386134224
rs386134224 		1.000 0.160 5 132393675 splice acceptor variant G/A 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 2 1999 2015
dbSNP: rs72552722
rs72552722 		1.000 0.160 5 132369984 stop gained C/G 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 2 2002 2006
dbSNP: rs727504159
rs727504159 		1.000 0.160 5 132370310 missense variant G/A snv 1.3E-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 2 2014 2014
dbSNP: rs1057517306
rs1057517306 		1.000 0.160 5 132393678 frameshift variant -/C 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 1 2005 2005
dbSNP: rs1554088578
rs1554088578 		1.000 0.160 5 132393779 frameshift variant A/- del
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 1 2005 2005
dbSNP: rs386134225
rs386134225 		1.000 0.160 5 132393780 frameshift variant -/ACAC 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 1 2007 2007
dbSNP: rs761090705
rs761090705 		1.000 0.160 5 132393769 frameshift variant C/-;CC 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 1 2005 2005
dbSNP: rs1022453298
rs1022453298 		1.000 0.160 5 132370023 frameshift variant C/- 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 0
dbSNP: rs1057516402
rs1057516402 		1.000 0.160 5 132394183 splice acceptor variant 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 0
dbSNP: rs1057516765
rs1057516765 		1.000 0.160 5 132378475 stop gained C/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 0
dbSNP: rs1057516797
rs1057516797 		1.000 0.160 5 132370127 frameshift variant -/GACGCCG 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 0
dbSNP: rs1057516805
rs1057516805 		1.000 0.160 5 132387024 splice acceptor variant G/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 0
dbSNP: rs1057517069
rs1057517069 		1.000 0.160 5 132370366 splice donor variant G/A 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 0
dbSNP: rs1057517106
rs1057517106 		1.000 0.160 5 132378377 splice acceptor 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 0
dbSNP: rs1057518297
rs1057518297 		1.000 0.160 5 132390889 stop gained C/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 0
dbSNP: rs1057519051
rs1057519051 		0.882 0.200 5 132390825 stop gained T/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 0
dbSNP: rs1253026669
rs1253026669 		1.000 0.160 5 132370224 stop gained C/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 0
dbSNP: rs1385634398
rs1385634398 		1.000 0.160 5 132390701 missense variant C/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 0