Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Acid-labile subunit (ALS) deficiency. 21396577

2011
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Acid-labile subunit (ALS) deficiency. 21396577

2011
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Acid-labile subunit (ALS) deficiency. 21396577

2011
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Acid-labile subunit deficiency and growth failure: description of two novel cases. 20389102

2010
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Acid-labile subunit deficiency and growth failure: description of two novel cases. 20389102

2010
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Acid-labile subunit deficiency and growth failure: description of two novel cases. 20389102

2010
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. 19129715

2009
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. 19129715

2009
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. 19129715

2009
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 18303074

2008
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 18303074

2008
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 18303074

2008
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 17726072

2007
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 17726072

2007
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 17726072

2007
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. 16507628

2006
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. 16507628

2006
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. 16507628

2006
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
dbSNP: rs587776686
rs587776686
IGFALS ; SPSB3
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231171
rs606231171
IGFALS ; SPSB3
CGCGCAGGCT 0.700 CausalMutation CLINVAR