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: rs1555987175
rs1555987175 		1.000 0.160 X 101407831 frameshift variant -/ACGAGGGCCAGGAA 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: rs1569306181
rs1569306181 		1.000 0.160 X 101407818 frameshift variant -/C 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 2 2001 2008
dbSNP: rs869312400
rs869312400 		1.000 0.160 X 101398803 frameshift variant -/C delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1555985091
rs1555985091 		1.000 0.160 X 101398799 frameshift variant -/C 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: rs1569302887
rs1569302887 		1.000 0.160 X 101398374 frameshift variant -/T 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 2013 2013
dbSNP: rs1555985002
rs1555985002 		1.000 0.160 X 101398520 frameshift variant -/T 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: rs104894836
rs104894836 		1.000 0.160 X 101407738 missense variant 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 0.800 1.000 30 1989 2017
dbSNP: rs104894838
rs104894838 		1.000 0.160 X 101400699 missense variant 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 0.800 1.000 30 1989 2017
dbSNP: rs869312158
rs869312158 		1.000 0.160 X 101398419 missense variant 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 0.800 1.000 20 1989 2016
dbSNP: rs1569304886
rs1569304886 		1.000 0.160 X 101403914 missense variant 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 5 1994 2017
dbSNP: rs1569304190
rs1569304190 		1.000 0.160 X 101401735 missense variant 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 1997 2017
dbSNP: rs869312138
rs869312138 		1.000 0.160 X 101407797 missense variant 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 0.800 1.000 1 2016 2016
dbSNP: rs1555985814
rs1555985814 		1.000 0.160 X 101401703 missense variant 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 0
dbSNP: rs387906483
rs387906483 		1.000 0.160 X 101403809 splice donor variant 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 0
dbSNP: rs886044860
rs886044860 		1.000 0.160 X 101398368 splice donor variant A/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 0.700 1.000 4 1999 2016
dbSNP: rs869312381
rs869312381 		1.000 0.160 X 101398919 missense variant A/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 0.700 0
dbSNP: rs28935488
rs28935488 		1.000 0.160 X 101398563 missense variant A/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 0.800 1.000 30 1989 2017
dbSNP: rs398123201
rs398123201 		1.000 0.160 X 101407779 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 0.800 1.000 34 1989 2017
dbSNP: rs28935196
rs28935196 		1.000 0.160 X 101401695 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 0.800 1.000 33 1989 2017
dbSNP: rs869312154
rs869312154 		1.000 0.160 X 101398802 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 0.800 1.000 30 1989 2017
dbSNP: rs869312157
rs869312157 		1.000 0.160 X 101398422 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 30 1989 2017
dbSNP: rs1555984869
rs1555984869 		1.000 0.160 X 101398081 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 20 1989 2016
dbSNP: rs727505292
rs727505292 		1.000 0.160 X 101398828 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 20 1989 2016
dbSNP: rs869312153
rs869312153 		1.000 0.160 X 101398825 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 0.800 1.000 20 1989 2016
dbSNP: rs869312298
rs869312298 		1.000 0.160 X 101401787 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 20 1989 2016