Disease: Cockayne Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518910
rs1057518910
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0009207
Disease:
Cockayne Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs752712823
rs752712823
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0009207
Disease:
Cockayne Syndrome 		0.010 GeneticVariation BEFREE The present report describes a case of Cockayne syndrome in a Chinese family, with the patients carrying two missense mutations (c.1595A>G, p.Asp532Gly and c.1607T>G, p.Leu536Trp) in the ERCC6 gene in an apparently compound heterozygote status, especially, p.Asp532Gly has never been reported. 25463447 2014
dbSNP: rs774175886
rs774175886
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
CUI: C0009207
Disease:
Cockayne Syndrome 		0.010 GeneticVariation BEFREE The present report describes a case of Cockayne syndrome in a Chinese family, with the patients carrying two missense mutations (c.1595A>G, p.Asp532Gly and c.1607T>G, p.Leu536Trp) in the ERCC6 gene in an apparently compound heterozygote status, especially, p.Asp532Gly has never been reported. 25463447 2014