Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908951
rs121908951
0.800 GeneticVariation UNIPROT PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. 25594860

2015

dbSNP: rs121908951
rs121908951
0.800 GeneticVariation UNIPROT Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. 23633440

2013

dbSNP: rs121908951
rs121908951
0.800 GeneticVariation UNIPROT Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674

2013

dbSNP: rs121908951
rs121908951
0.800 GeneticVariation UNIPROT Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428

2009

dbSNP: rs121908951
rs121908951
0.800 GeneticVariation UNIPROT Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. 9714015

1998

dbSNP: rs138943074
rs138943074
0.700 GeneticVariation UNIPROT PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. 25594860

2015

dbSNP: rs138943074
rs138943074
0.700 GeneticVariation UNIPROT Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. 23633440

2013

dbSNP: rs138943074
rs138943074
0.700 GeneticVariation UNIPROT Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674

2013

dbSNP: rs138943074
rs138943074
0.700 GeneticVariation UNIPROT Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428

2009

dbSNP: rs138943074
rs138943074
0.700 GeneticVariation UNIPROT Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. 9714015

1998