Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909247
rs121909247
IGFALS ; SPSB3
G 0.800 CausalMutation CLINVAR

dbSNP: rs587776686
rs587776686
IGFALS ; SPSB3
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231171
rs606231171
IGFALS ; SPSB3
CGCGCAGGCT 0.700 CausalMutation CLINVAR

dbSNP: rs551618643
rs551618643
IGFALS ; SPSB3
C 0.800 GeneticVariation CLINVAR A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations. 22991227

2012
dbSNP: rs121909247
rs121909247
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611

2013
dbSNP: rs551618643
rs551618643
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611

2013
dbSNP: rs766004600
rs766004600
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611

2013
dbSNP: rs774634302
rs774634302
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611

2013
dbSNP: rs776840046
rs776840046
IGFALS ; SPSB3
0.700 GeneticVariation UNIPROT A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611

2013
dbSNP: rs121909247
rs121909247
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT Acid-labile subunit (ALS) deficiency. 21396577

2011
dbSNP: rs551618643
rs551618643
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT Acid-labile subunit (ALS) deficiency. 21396577

2011
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: rs121909247
rs121909247
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT Acid-labile subunit deficiency and growth failure: description of two novel cases. 20389102

2010
dbSNP: rs551618643
rs551618643
IGFALS ; SPSB3
0.800 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 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: rs551618643
rs551618643
IGFALS ; SPSB3
C 0.800 GeneticVariation CLINVAR Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies. 27018247

2016
dbSNP: rs121909247
rs121909247
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
dbSNP: rs551618643
rs551618643
IGFALS ; SPSB3
0.800 GeneticVariation UNIPROT Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
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