SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564792181
rs1564792181
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		T 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1564794233
rs1564794233
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs1564796294
rs1564796294
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		T 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
dbSNP: rs797045070
rs797045070
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs587784425
rs587784425
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587784425
rs587784425
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587784427
rs587784427
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587784429
rs587784429
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587784429
rs587784429
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs727503775
rs727503775
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs727503775
rs727503775
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		G 0.700 CausalMutation CLINVAR
dbSNP: rs776056911
rs776056911
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs797044861
rs797044861
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797045996
rs797045996
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs797045997
rs797045997
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		AAAG 0.700 GeneticVariation CLINVAR
dbSNP: rs863223279
rs863223279
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863225258
rs863225258
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs863225259
rs863225259
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863225260
rs863225260
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863225261
rs863225261
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs866273473
rs866273473
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs869312672
rs869312672
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs869312672
rs869312672
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C0026351
Disease:
Moderate intellectual disability 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs869312672
rs869312672
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs886041239
rs886041239
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C0026106
Disease:
Mild Mental Retardation 		G 0.700 GeneticVariation CLINVAR