rs1129647, GABRA1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute intermittent porphyria
CUI: C0162565
Disease: Acute intermittent porphyria
0.010 GeneticVariation BEFREE The genotype frequency of rs1129647 showed nominal association with AIP in the log-additive model (P=0.04). 27080428 2016
Acute interstitial pneumonia
CUI: C1279945
Disease: Acute interstitial pneumonia
0.010 GeneticVariation BEFREE The genotype frequency of rs1129647 showed nominal association with AIP in the log-additive model (P=0.04). 27080428 2016
Essential Tremor
CUI: C0270736
Disease: Essential Tremor
0.010 GeneticVariation BEFREE Since the 156T>C variant appears to be not pathogenically relevant, our results suggest that missense, nonsense or splice site mutation in the coding region of the GABRA1 gene is not a major genetic cause of ET</span> in Caucasian subjects. 16530959 2006