Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793083
rs1064793083
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: rs1554588675
rs1554588675
GA 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
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
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: rs1554602564
rs1554602564
GC 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
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: rs886041166
rs886041166
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: rs1064793083
rs1064793083
T 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014

dbSNP: rs1554588675
rs1554588675
GA 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014

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

2014

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

2014

dbSNP: rs1554602564
rs1554602564
GC 0.700 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014

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

2014

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

2014

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

2013

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

2013

dbSNP: rs1554588675
rs1554588675
GA 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013

dbSNP: rs1554588675
rs1554588675
GA 0.700 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013

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

2013

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

2013

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

2013

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

2013

dbSNP: rs1554602564
rs1554602564
GC 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013

dbSNP: rs1554602564
rs1554602564
GC 0.700 CausalMutation CLINVAR CHD7 gene polymorphisms and familial idiopathic scoliosis. 23883829

2013

dbSNP: rs875989879
rs875989879
T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013