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: 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: rs774971089
rs774971089 		1.000 0.160 5 132369973 start lost A/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: rs1554085885
rs1554085885 		1.000 0.160 5 132369974 start lost 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: 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: 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: rs1554085892
rs1554085892 		1.000 0.160 5 132369985 frameshift variant G/- 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 0
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: rs267607052
rs267607052 		1.000 0.160 5 132370015 missense variant G/T snv 9.6E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 18 1999 2017
dbSNP: rs11568520
rs11568520 		1.000 0.160 5 132370023 missense variant C/G snv 1.2E-04 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 0.800 1.000 5 2006 2014
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: 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: 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: rs775502377
rs775502377 		1.000 0.160 5 132370043 frameshift variant T/- del 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 0
dbSNP: rs772578415
rs772578415 		1.000 0.160 5 132370049 missense variant G/A snv 1.2E-05 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 0
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: rs72552725
rs72552725 		0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1999 2017
dbSNP: rs199689597
rs199689597 		1.000 0.160 5 132370103 missense variant C/A;G;T snv 4.1E-06; 2.9E-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 0
dbSNP: rs762986044
rs762986044 		1.000 0.160 5 132370106 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: rs202088921
rs202088921 		1.000 0.160 5 132370108 missense variant C/G;T snv 4.5E-04
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 24 1999 2017
dbSNP: rs386134227
rs386134227 		1.000 0.160 5 132370120 frameshift variant T/- 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 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: rs1554085942
rs1554085942 		1.000 0.160 5 132370157 stop gained 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: 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: rs72552726
rs72552726 		1.000 0.160 5 132370220 missense variant G/T snv 2.7E-04 3.5E-05
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 23 1999 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