Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78311289
rs78311289
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		G 0.710 GeneticVariation CLINVAR Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations. 11429702

2001
dbSNP: rs78311289
rs78311289
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.710 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000
dbSNP: rs78311289
rs78311289
FGFR3
CUI: C0007097
Disease: Carcinoma
Carcinoma 		G 0.710 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999