Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13255070
rs13255070
Entrez Id: 10565
Gene Symbol: ARFGEF1
ARFGEF1
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs587777141
rs587777141
Entrez Id: 10565;79848
Gene Symbol: ARFGEF1;CSPP1
ARFGEF1;CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		TA 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs773954226
rs773954226
Entrez Id: 10565;79848
Gene Symbol: ARFGEF1;CSPP1
ARFGEF1;CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015