Gene: CHD7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs1554603550
rs1554603550
CHD7
G 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs1554604059
rs1554604059
CHD7
C 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs1554605030
rs1554605030
CHD7
CT 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs875989879
rs875989879
CHD7
T 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs886040988
rs886040988
CHD7
A 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs886041166
rs886041166
CHD7
T 0.700 CausalMutation CLINVAR Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 26590800

2016
dbSNP: rs797044919
rs797044919
CHD7
TC 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs1554603550
rs1554603550
CHD7
G 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs1554604059
rs1554604059
CHD7
C 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs1554605030
rs1554605030
CHD7
CT 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs875989879
rs875989879
CHD7
T 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs886040988
rs886040988
CHD7
A 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs886041166
rs886041166
CHD7
T 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013