GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Hypertrophic Cardiomyopathy ×
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: rs199473684
rs199473684 		0.925 0.160 X 101399747 3 prime UTR variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 13 2002 2017
dbSNP: rs28935197
rs28935197 		0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 11 1993 2017
dbSNP: rs727504348
rs727504348 		0.925 0.160 X 101397982 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 1995 2007
dbSNP: rs104894833
rs104894833 		0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845 		0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397515871
rs397515871 		1.000 0.040 X 101407834 missense variant A/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs398123226
rs398123226 		0.882 0.160 X 101398403 missense variant G/C;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2017 2017