COPA, COPI coat complex subunit alpha, 1314

N. diseases: 37; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727993
rs794727993
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
T 0.800 CausalMutation CLINVAR COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 25894502 2015
dbSNP: rs794727993
rs794727993
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
0.800 GeneticVariation UNIPROT
dbSNP: rs794727994
rs794727994
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
C 0.800 CausalMutation CLINVAR
dbSNP: rs794727994
rs794727994
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
0.800 GeneticVariation UNIPROT
dbSNP: rs794727995
rs794727995
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
T 0.800 CausalMutation CLINVAR
dbSNP: rs794727995
rs794727995
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
0.800 GeneticVariation UNIPROT
dbSNP: rs864309710
rs864309710
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
0.800 GeneticVariation UNIPROT
dbSNP: rs864309710
rs864309710
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
A 0.800 CausalMutation CLINVAR
dbSNP: rs1557868211
rs1557868211
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C4225334
Disease:
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
G 0.700 GeneticVariation CLINVAR
dbSNP: rs10752637
rs10752637
Entrez Id: 1314;23385
Gene Symbol: COPA;NCSTN
COPA;NCSTN
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE Overall, our results indicate that the rs10752637 SNP can likely influence the expression of NCSTN, and that this may be an influencing factor during the pathogenesis of AD. 19840113 2009