rs1057519466, HEXA

N. diseases: 7
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.
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
15 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
Hyperacusis
CUI: C0034880
Disease: Hyperacusis
9 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
129 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0