SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Disease: Creatine deficiency, X-linked ×
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: rs397515559
rs397515559 		1.000 0.120 X 153694783 missense variant C/T snv 5.5E-06
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 2002 2015
dbSNP: rs122453114
rs122453114 		1.000 0.120 X 153693586 missense variant G/C snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2002 2015
dbSNP: rs122453115
rs122453115 		1.000 0.120 X 153688833 missense variant G/A snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2002 2015
dbSNP: rs122453116
rs122453116 		1.000 0.120 X 153693361 missense variant C/G snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2002 2015
dbSNP: rs122453117
rs122453117 		1.000 0.120 X 153691304 missense variant G/T snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2002 2015
dbSNP: rs122453118
rs122453118 		1.000 0.120 X 153694424 missense variant C/G;T snv 1.2E-04
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2002 2015
dbSNP: rs372567920
rs372567920 		1.000 0.120 X 153694776 missense variant G/A;T snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 9 2002 2015
dbSNP: rs782354054
rs782354054 		1.000 0.120 X 153694737 missense variant G/A snv 2.7E-05 3.8E-05
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 9 2002 2015
dbSNP: rs80338740
rs80338740 		1.000 0.120 X 153693979 inframe deletion TTC/- delins 9.5E-06
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2002 2013
dbSNP: rs1557045267
rs1557045267 		1.000 0.120 X 153693934 missense variant C/T snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2006 2011
dbSNP: rs1060502808
rs1060502808 		1.000 0.120 X 153693322 splice acceptor variant CA/- delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs122453113
rs122453113 		1.000 0.120 X 153694577 stop gained C/T snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557043770
rs1557043770 		1.000 0.120 X 153688627 frameshift variant AGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG/CCGTGT delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557045581
rs1557045581 		1.000 0.120 X 153694617 frameshift variant C/- delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569539244
rs1569539244 		1.000 0.120 X 153690373 splice acceptor variant A/G snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569539359
rs1569539359 		1.000 0.120 X 153693299 stop gained -/A delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569539381
rs1569539381 		1.000 0.120 X 153693548 frameshift variant -/A delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569539443
rs1569539443 		1.000 0.120 X 153694406 stop gained G/A snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569539466
rs1569539466 		1.000 0.120 X 153694781 stop gained C/G snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515558
rs397515558 		1.000 0.120 X 153694753 missense variant C/T snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs782433037
rs782433037 		1.000 0.120 X 153693349 inframe deletion AAC/- delins 9.4E-06
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338739
rs80338739 		0.925 0.120 X 153690428 inframe deletion CTT/- delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0