GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Fabry Disease ×
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: rs112341092
rs112341092 		1.000 0.160 X 101397855 missense variant A/G 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 9 2008 2015
dbSNP: rs869312246
rs869312246 		1.000 0.160 X 101397858 stop gained A/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 0.700 0
dbSNP: rs797044777
rs797044777 		1.000 0.160 X 101397863 frameshift variant AG/- del
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 2001 2018
dbSNP: rs730880442
rs730880442 		1.000 0.160 X 101397870 missense variant 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 1 2012 2012
dbSNP: rs104894852
rs104894852 		0.925 0.200 X 101397871 missense variant T/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 0.810 1.000 31 1989 2017
dbSNP: rs878853698
rs878853698 		1.000 0.160 X 101397874 missense variant 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 4 2001 2011
dbSNP: rs782449839
rs782449839 		1.000 0.160 X 101397903 missense variant C/G snv 8.2E-05 1.9E-05
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 20 1989 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: rs869312165
rs869312165 		1.000 0.160 X 101397923 missense variant 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 0.800 1.000 30 1989 2017
dbSNP: rs797044775
rs797044775 		1.000 0.160 X 101397942 missense variant T/G 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 2006 2015
dbSNP: rs1057519609
rs1057519609 		1.000 0.160 X 101397950 inframe deletion AAG/- delins
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: rs876661347
rs876661347 		1.000 0.160 X 101397959 frameshift variant AGGATTACAGGCCACT/- del
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: rs869312164
rs869312164 		1.000 0.160 X 101397975 missense variant C/G 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 20 1989 2016
dbSNP: rs869312227
rs869312227 		1.000 0.160 X 101397981 splice donor 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 0
dbSNP: rs727504348
rs727504348 		0.925 0.160 X 101397982 missense 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 0.800 1.000 17 1995 2017
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: rs111422676
rs111422676 		1.000 0.160 X 101398011 missense variant C/T snv 5.5E-05 1.3E-04
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 17 2001 2017
dbSNP: rs28935494
rs28935494 		1.000 0.160 X 101398018 missense variant C/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 0.810 1.000 31 1989 2020
dbSNP: rs782598150
rs782598150 		1.000 0.160 X 101398021 missense variant C/A;G 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 20 1989 2016
dbSNP: rs1569302697
rs1569302697 		1.000 0.160 X 101398023 inframe deletion TCCTGCCGGTTTATC/- delins
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: rs730880453
rs730880453 		1.000 0.160 X 101398025 inframe deletion CCT/- delins
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 13 1996 2016
dbSNP: rs797044774
rs797044774 		1.000 0.160 X 101398027 missense 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 0
dbSNP: rs869312163
rs869312163 		1.000 0.160 X 101398032 missense variant C/G;T snv 1.1E-05
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: rs104894827
rs104894827 		1.000 0.160 X 101398033 missense variant 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 0.800 1.000 43 1989 2017
dbSNP: rs886044829
rs886044829 		1.000 0.160 X 101398041 frameshift variant TA/- delins
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 1997 1997