rs370266293, HEXA

N. diseases: 5
Source: CLINVAR ×
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
103 0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 0.800 1.000 0 1988 2016
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
15 0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
78 0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 0.700 0