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 CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs1554588675
rs1554588675
CHD7
GA 0.700 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs1554602564
rs1554602564
CHD7
GC 0.700 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs875989879
rs875989879
CHD7
T 0.700 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs886041166
rs886041166
CHD7
T 0.700 CausalMutation CLINVAR CHARGE Association in newborns: a registry-based study. 10590394

1999
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs1554588675
rs1554588675
CHD7
GA 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs1554602564
rs1554602564
CHD7
GC 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs875989879
rs875989879
CHD7
T 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs886041166
rs886041166
CHD7
T 0.700 CausalMutation CLINVAR Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. 14626219

2003
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs1554588675
rs1554588675
CHD7
GA 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs1554602564
rs1554602564
CHD7
GC 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs875989879
rs875989879
CHD7
T 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs886041166
rs886041166
CHD7
T 0.700 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004
dbSNP: rs1064793083
rs1064793083
CHD7
T 0.700 CausalMutation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005
dbSNP: rs1554588675
rs1554588675
CHD7
GA 0.700 CausalMutation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005
dbSNP: rs1554599036
rs1554599036
CHD7
A 0.700 CausalMutation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005
dbSNP: rs1554602465
rs1554602465
CHD7
A 0.700 GeneticVariation CLINVAR Updated diagnostic criteria for CHARGE syndrome: a proposal. 15666308

2005