DisGeNET - a database of gene-disease associations

Achromatopsia 3, C1849792

Variant: rs768345097 ×

Source: ALL

Results per page

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs768345097

CNGB3

0.700

CausalMutation

CLINVAR

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

28795510

2017

dbSNP:

rs768345097

CNGB3

0.700

GeneticVariation

CLINVAR

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

15657609

2005