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: 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: rs1321705165
rs1321705165 		1.000 0.160 5 132370363 stop gained G/A;T snv 1.7E-05 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 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
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: 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: 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: rs1554085973
rs1554085973 		1.000 0.160 5 132370222 frameshift variant -/CCGGCTCGCCACCA 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: rs1554086010
rs1554086010 		1.000 0.160 5 132370333 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: rs1554087461
rs1554087461 		1.000 0.160 5 132385327 frameshift variant -/TATGGCCATCAGGTTGGAG 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: rs1554087491
rs1554087491 		1.000 0.160 5 132385429 frameshift variant T/- 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: rs1554087719
rs1554087719 		1.000 0.160 5 132387081 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 0
dbSNP: rs1554087913
rs1554087913 		1.000 0.160 5 132388919 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: rs1554087949
rs1554087949 		1.000 0.160 5 132389022 splice donor 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: rs1554088165
rs1554088165 		1.000 0.160 5 132390809 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: rs1554088200
rs1554088200 		1.000 0.160 5 132390905 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: rs1561566541
rs1561566541 		1.000 0.160 5 132378237 splice donor variant T/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