DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Tay-Sachs Disease ×

Variant: rs387906309 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906309

rs387906309

HEXA

CUI:	C0039373
Disease:	Tay-Sachs Disease

Tay-Sachs Disease

GGATA

0.710

CausalMutation

CLINVAR

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

1988