GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
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: rs869312203
rs869312203 		1.000 0.160 X 101398109 intron variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2011 2017
dbSNP: rs28935491
rs28935491 		1.000 0.160 X 101398390 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 30 1989 2017
dbSNP: rs104894841
rs104894841 		1.000 0.160 X 101398907 stop gained G/A snv 9.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 14 1993 2015
dbSNP: rs869312214
rs869312214 		1.000 0.160 X 101398078 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 13 1999 2017
dbSNP: rs398123224
rs398123224 		1.000 0.160 X 101398468 stop gained G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2001 2013
dbSNP: rs727504350
rs727504350 		1.000 0.160 X 101401694 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 4 2000 2016
dbSNP: rs104894844
rs104894844 		1.000 0.160 X 101397907 stop gained C/A;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 3 1993 1996
dbSNP: rs886044766
rs886044766 		1.000 0.160 X 101398539 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 3 1999 2018
dbSNP: rs104894843
rs104894843 		1.000 0.160 X 101398075 stop gained G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 1993 2006
dbSNP: rs398123221
rs398123221 		1.000 0.160 X 101398838 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2001 2017
dbSNP: rs104894851
rs104894851 		0.925 0.200 X 101398920 stop gained G/T snv
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs104894851
rs104894851 		0.925 0.200 X 101398920 stop gained G/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 1 2003 2003
dbSNP: rs104894851
rs104894851 		0.925 0.200 X 101398920 stop gained G/T snv
CUI: C0027796
Disease: Neuralgia
Neuralgia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1569304851
rs1569304851 		1.000 0.160 X 101403873 stop gained C/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs727503949
rs727503949 		1.000 0.160 X 101398928 stop gained G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 1 2004 2004
dbSNP: rs868949479
rs868949479 		1.000 0.160 X 101400693 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs869312346
rs869312346 		1.000 0.160 X 101400694 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs869312402
rs869312402 		1.000 0.160 X 101398801 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs104894829
rs104894829 		1.000 0.160 X 101407773 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs104894839
rs104894839 		1.000 0.160 X 101398508 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs104894842
rs104894842 		1.000 0.160 X 101398079 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs104894849
rs104894849 		1.000 0.160 X 101398004 stop gained A/G;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057516429
rs1057516429 		1.000 0.160 X 101403936 stop gained T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060500747
rs1060500747 		1.000 0.160 X 101398851 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555985827
rs1555985827 		1.000 0.160 X 101401723 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0