RETREG1, reticulophagy regulator 1, 54463

N. diseases: 89; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75869162
rs75869162
Entrez Id: 54463;101929524
Gene Symbol: RETREG1;LOC101929524
RETREG1;LOC101929524
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs137852736
rs137852736
Entrez Id: 54463;101929524
Gene Symbol: RETREG1;LOC101929524
RETREG1;LOC101929524
CUI: C0020072
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852737
rs137852737
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C2751092
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852737
rs137852737
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C0020072
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852738
rs137852738
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C0020072
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852739
rs137852739
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C2751092
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137852739
rs137852739
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C2751092
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs137852739
rs137852739
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C0020072
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886037748
rs886037748
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
CUI: C2751092
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 		C 0.700 CausalMutation CLINVAR