Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138085133
rs138085133
Entrez Id: 2134;101928216
Gene Symbol: EXTL1;LOC101928216
EXTL1;LOC101928216
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE EXTL1 mutation screening resulted in the detection of one unclassified variant (Ser28Cys) but could not provide additional evidence of EXTL1 being involved in the aetiology of neuroblastoma. 15110891 2004
dbSNP: rs138085133
rs138085133
Entrez Id: 2134;101928216
Gene Symbol: EXTL1;LOC101928216
EXTL1;LOC101928216
CUI: C0700095
Disease:
Central neuroblastoma 		0.010 GeneticVariation BEFREE EXTL1 mutation screening resulted in the detection of one unclassified variant (Ser28Cys) but could not provide additional evidence of EXTL1 being involved in the aetiology of neuroblastoma. 15110891 2004
dbSNP: rs138085133
rs138085133
Entrez Id: 2134;101928216
Gene Symbol: EXTL1;LOC101928216
EXTL1;LOC101928216
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE EXTL1 mutation screening resulted in the detection of one unclassified variant (Ser28Cys) but could not provide additional evidence of EXTL1 being involved in the aetiology of neuroblastoma. 15110891 2004