rs387906309, HEXA

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
129 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.710 1.000 26 1988 2019
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 14 1986 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 11 1986 2011
Abnormal thalamic MRI signal intensity
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
6 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
15 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
Hyperacusis
CUI: C0034880
Disease: Hyperacusis
9 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014