rs1057519468, 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 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
129 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014