GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; N. variants: 18
Disease: Guanidinoacetate methyltransferase deficiency ×
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: rs80338734
rs80338734 		0.925 0.160 19 1401418 missense variant C/A;G snv 5.4E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 12 1996 2014
dbSNP: rs886054247
rs886054247 		1.000 0.080 19 1401344 missense variant A/T snv 2.5E-05 6.3E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 12 1996 2014
dbSNP: rs104894694
rs104894694 		1.000 0.080 19 1401329 missense variant T/G snv
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 11 1996 2014
dbSNP: rs121909272
rs121909272 		1.000 0.080 19 1398980 missense variant C/T snv 1.6E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 11 1996 2014
dbSNP: rs1220169908
rs1220169908 		1.000 0.080 19 1401317 missense variant C/G snv
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs1441030187
rs1441030187 		1.000 0.080 19 1399896 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs1447665588
rs1447665588 		1.000 0.080 19 1399918 missense variant C/A;G snv
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs1483148182
rs1483148182 		1.000 0.080 19 1398989 missense variant A/G snv 4.0E-06
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs753198836
rs753198836 		1.000 0.080 19 1399587 missense variant C/A;T snv 4.0E-06
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs760101382
rs760101382 		1.000 0.080 19 1398995 missense variant C/A;T snv 1.2E-05; 4.0E-06
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs774144200
rs774144200 		1.000 0.080 19 1399184 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 1996 2014
dbSNP: rs370421531
rs370421531 		1.000 0.080 19 1398964 stop gained C/A;G;T snv 4.0E-06; 2.8E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2005 2013
dbSNP: rs80338735
rs80338735 		0.925 0.160 19 1399793 splice region variant C/T snv 1.9E-04 1.7E-04
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1996 2014
dbSNP: rs749390953
rs749390953 		1.000 0.080 19 1398995 frameshift variant C/-;CC delins 4.2E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2000 2004
dbSNP: rs747656257
rs747656257 		1.000 0.080 19 1399168 stop gained G/A;T snv 3.6E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2004 2007
dbSNP: rs80338736
rs80338736 		1.000 0.080 19 1399808 frameshift variant -/GGCCCAGTCCCGG delins 4.9E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1371496558
rs1371496558 		1.000 0.080 19 1399148 missense variant G/A snv 7.0E-06
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs767887772
rs767887772 		1.000 0.080 19 1397447 missense variant C/A;G;T snv 1.2E-05; 3.6E-05
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0