rs1057519463, HEXA

N. diseases: 6
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 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
129 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014