Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781720
rs587781720
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors. 23109135

2013

dbSNP: rs587781720
rs587781720
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968

2013

dbSNP: rs587781720
rs587781720
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. 23730622

2013