Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 CausalMutation CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 GeneticVariation CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 CausalMutation CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 GeneticVariation CLINVAR Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels. 26106334 2015
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 GeneticVariation CLINVAR Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 25616768 2015
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 GeneticVariation CLINVAR CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. 25205868 2014
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
A 0.800 GeneticVariation CLINVAR CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 12357335 2002
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 12357335 2002
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 12357335 2002
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Genetic basis of total colourblindness among the Pingelapese islanders. 10888875 2000
dbSNP: rs121918344
rs121918344
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 10958649 2000
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Genetic basis of total colourblindness among the Pingelapese islanders. 10888875 2000
dbSNP: rs139207764
rs139207764
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 10958649 2000
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Genetic basis of total colourblindness among the Pingelapese islanders. 10888875 2000
dbSNP: rs1554612145
rs1554612145
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease:
Achromatopsia 3
0.800 GeneticVariation UNIPROT Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 10958649 2000