Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519467
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		0.800 1.000 1 2008 2012
dbSNP: rs1057519467
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		0.700 1.000 1 2012 2012
dbSNP: rs1057519467
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 1 2012 2012
dbSNP: rs1057519467
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2012 2012
dbSNP: rs1057519467
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2012 2012