Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34203073
rs34203073
Entrez Id: 55109
Gene Symbol: AGGF1
AGGF1
CUI: C0022739
Disease:
Klippel-Trenaunay-Weber Syndrome 		0.720 GeneticVariation BEFREE The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS. 16443853 2006
dbSNP: rs34203073
rs34203073
Entrez Id: 55109
Gene Symbol: AGGF1
AGGF1
CUI: C0022739
Disease:
Klippel-Trenaunay-Weber Syndrome 		0.720 GeneticVariation UNIPROT The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. 14961121 2004
dbSNP: rs34203073
rs34203073
Entrez Id: 55109
Gene Symbol: AGGF1
AGGF1
CUI: C0022739
Disease:
Klippel-Trenaunay-Weber Syndrome 		0.720 GeneticVariation BEFREE The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. 14961121 2004
dbSNP: rs34203073
rs34203073
Entrez Id: 55109
Gene Symbol: AGGF1
AGGF1
CUI: C0042373
Disease:
Vascular Diseases 		0.010 GeneticVariation BEFREE It has been reported that the activating mutation, E133K, in the angiogenic factor VG5Q (formally named AGGF1) causes Klippel-Trenaunay Syndrome (KTS), a rare vascular disease associated with asymmetric overgrowth. 16443853 2006