SSR4, signal sequence receptor subunit 4, 6748

N. diseases: 32; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231298
rs606231298
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
CUI: C4012395
Disease:
Congenital disorder of glycosylation type 1y 		A 0.700 CausalMutation CLINVAR A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 24218363 2014
dbSNP: rs794729223
rs794729223
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
CUI: C4012395
Disease:
Congenital disorder of glycosylation type 1y 		C 0.700 GeneticVariation CLINVAR A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 24218363 2014
dbSNP: rs1057518735
rs1057518735
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
CUI: C4012395
Disease:
Congenital disorder of glycosylation type 1y 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518736
rs1057518736
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
CUI: C4012395
Disease:
Congenital disorder of glycosylation type 1y 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557072752
rs1557072752
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
CUI: C4012395
Disease:
Congenital disorder of glycosylation type 1y 		G 0.700 CausalMutation CLINVAR
dbSNP: rs794729223
rs794729223
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
CUI: C4012395
Disease:
Congenital disorder of glycosylation type 1y 		C 0.700 CausalMutation CLINVAR